Library Of Articles
Browse our articles below to discover a range of useful resources and content.
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Bannayan-Riley-Ruvalcaba syndrome
Bannayan-Riley-Ruvalcaba Syndrome (BRRS) is a rare genetic disorder characterized by multiple hamartomas (benign, tumor-like growths), macrocephaly (abnormally large head size), lipomas (fatty tissue growths), and other developmental abnormalities. The syndrome is often linked with an increased risk of developing certain types of cancer. BRRS is caused by mutations in the PTEN gene, which is responsible for controlling cell growth and division.
For authoritative information about Bannayan-Riley-Ruvalcaba Syndrome , consider visiting the website of National Organization of Rare Disorders: https://rarediseases.org/rare-diseases/ruvalcaba-syndrome/
This is a reputable organization that provides support and resources to individuals and families affected by rare genetic conditions. They offer information about various genetic disorders, including BRRS, and can help connect you with appropriate support services and resources within Australia.
Batten Disease
Batten disease, also known as Neuronal Ceroid Lipofuscinoses (NCL), is a group of rare, progressive, and fatal neurodegenerative disorders that primarily affect children. These inherited diseases are characterized by the accumulation of lipofuscin, a fatty substance, in the brain and other tissues of the body, leading to the death of neurons and other cells.
Symptoms of Batten disease can include vision problems, seizures, motor skill impairment, cognitive decline, and speech difficulties. The age of onset, progression, and severity of the disease vary depending on the specific type of NCL.
A reputable Australian website that provides authoritative information about Batten disease is the Batten Disease Support and Research Association Australia (BDSRA Australia). Their website is https://bdsraaustralia.org/.
This organization is dedicated to supporting families affected by Batten disease and funding research efforts to find a cure. On their website, you can find information about the disease, available resources, and news about the latest research developments.
Beckwith-Wiedemann Syndrome (BWS)
Beckwith-Wiedemann Syndrome (BWS) is a rare genetic overgrowth disorder characterized by an increased risk of childhood cancer and various congenital anomalies. These may include macrosomia (large body size), macroglossia (enlarged tongue), omphalocele (a protrusion of the abdominal organs through the navel), hemihyperplasia (asymmetric growth of body parts), and other abnormalities. BWS is usually caused by mutations or alterations in the imprinted genes located on chromosome 11p15.5. Diagnosis often relies on clinical features, genetic testing, and epigenetic testing. Treatment and management for BWS patients depend on the specific symptoms they experience and may include surgical interventions, orthodontic care, and close monitoring for tumor development.
A reputable Australian website that offers authoritative information on Beckwith-Wiedemann Syndrome is the National Organisation for Rare Disorders. The website provides accurate and up-to-date information on BWS, including causes, symptoms, diagnosis, and management options, as well as access to support groups and services for families and individuals affected by the condition.
NORD website: https://rarediseases.org/
While NORD offers valuable information on BWS, it is always a good idea to consult with a healthcare professional for personalized advice and the most up-to-date information.
Bell’s Palsy
Bell’s Palsy is a sudden, temporary weakness or paralysis of the muscles on one side of the face. It is caused by the dysfunction or inflammation of the facial nerve (cranial nerve VII), which controls the muscles of the face. Symptoms can vary from mild to severe and can include sudden facial weakness, drooping of the mouth or eye, difficulty closing the eye or smiling, tearing, drooling, sensitivity to sound in one ear, and sometimes, a loss of taste sensation.
The exact cause of Bell’s Palsy is unknown, but it is believed to be linked to viral infections, such as the herpes simplex virus, which can cause inflammation and swelling of the facial nerve. Most people with Bell’s Palsy recover fully within three to six months, although some may continue to experience mild weakness or other complications.
For authoritative information on Bell’s Palsy from an Australian source, consider visiting the Better Health Channel, which is a government-funded website providing health and medical information. The website is supported by the Department of Health and Human Services, Victoria, and offers evidence-based, peer-reviewed content. You can find information on Bell’s Palsy at the following link:
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/bells-palsy
Benign positional vertigo
Benign Paroxysmal Positional Vertigo (BPPV) is a common inner ear disorder that causes episodes of dizziness and a sensation of spinning, known as vertigo. These episodes are typically brief and occur when a person changes the position of their head, such as when lying down, rolling over in bed, bending over, or turning the head. BPPV is caused by the displacement of tiny calcium carbonate crystals (otoconia) from their normal location in the utricle, a part of the inner ear, into one of the semicircular canals where they shouldn’t be. This displacement disturbs the normal functioning of the inner ear and results in the sensations of vertigo and dizziness.
A reputable Australian website that has authoritative information about Benign Paroxysmal Positional Vertigo is the Australian Government’s health information website, Healthdirect. On this website, you can find information on various health conditions, including BPPV, their symptoms, diagnosis, treatment options, and prevention strategies. The information on Healthdirect is reliable and evidence-based, and it is developed in partnership with reputable Australian health organizations.
Here’s a direct link to the Healthdirect page about BPPV: https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/benign-paroxysmal-positional-vertigo-bppv
Bipolar Disorder
Bipolar disorder, also known as manic-depressive illness, is a mental health condition characterized by extreme mood swings. These mood swings include episodes of mania (elevated mood, high energy, and reduced need for sleep) and depression (low mood, loss of interest, and feelings of hopelessness). These episodes can last for weeks or even months and can severely impact daily functioning, relationships, and overall quality of life.
It is important to note that bipolar disorder is not the same as regular mood fluctuations experienced by most people. The mood shifts in bipolar disorder are more severe, can lead to impaired functioning, and may require professional intervention.
A reputable Australian website that provides authoritative information about bipolar disorder is Beyond Blue, an independent non-profit organization focused on mental health. You can visit their website at https://www.beyondblue.org.au/. On this website, you’ll find information about the signs and symptoms, causes, diagnosis, and treatment of bipolar disorder, as well as resources and support services for those affected by the condition and their loved ones.
Blackfan-Diamond anemia
Diamond-Blackfan Anemia (DBA) is a rare genetic blood disorder characterized by a failure of the bone marrow to produce an adequate number of red blood cells. This condition is usually diagnosed within the first year of life and can result in severe anemia, physical abnormalities, and an increased risk of developing leukemia and other cancers.
The underlying cause of DBA is usually a mutation in one of several ribosomal protein genes, which play a critical role in the production of red blood cells. The condition is inherited in an autosomal dominant pattern, meaning that a child only needs to inherit one copy of the mutated gene from one parent to develop the disorder.
Treatment options for Diamond-Blackfan Anemia include blood transfusions, corticosteroids, and bone marrow transplantation, depending on the severity of the anemia and the patient’s overall health.
For authoritative information on Diamond-Blackfan Anemia, I recommend visiting the Genetic and Rare Diseases (GARD) website. GARD is a trusted organization providing information and support related to various blood disorders, and their website features comprehensive information on DBA, its symptoms, diagnosis, treatment, and management.
Website: https://rarediseases.info.nih.gov/diseases/6274/diamond-blackfan-anemia
Please note that while this organization may not focus solely on Diamond-Blackfan Anemia, it is a reputable source of information about blood disorders.
Blind loop syndrome
Blind loop syndrome, also known as stagnant loop syndrome or small intestinal bacterial overgrowth (SIBO), is a condition where the normal bacterial flora in the small intestine becomes overgrown, leading to a variety of digestive problems. This condition typically occurs when the small intestine has been surgically altered or if there is an anatomical abnormality that leads to the formation of a “blind loop.” The blind loop is a portion of the intestine where the normal flow of digestive contents is disrupted, causing stagnation and bacterial overgrowth.
Symptoms of blind loop syndrome can include abdominal pain, bloating, gas, diarrhea, and malabsorption of nutrients, which can lead to weight loss and deficiencies in essential vitamins and minerals. Treatment for the condition usually involves antibiotics to reduce bacterial overgrowth, and in some cases, surgery may be necessary to correct the anatomical issue.
For authoritative information on blind loop syndrome from an Australian source, you can visit the Gastroenterological Society of Australia’s website (GESA). GESA is the peak professional body for gastroenterology in Australia, and their website offers a wealth of resources on various gastrointestinal conditions. Their website can be found at https://www.gesa.org.au. You can also consult a healthcare professional for personalized advice and guidance regarding blind loop syndrome.
Blindness
Blindness, also known as vision impairment or vision loss, refers to a condition where a person has reduced or complete loss of sight in one or both eyes. It can result from various factors such as genetics, aging, injury, disease, or other conditions affecting the eyes or visual system. The severity of blindness can range from mild or moderate vision impairment to total blindness, with the latter meaning an individual cannot perceive light or has no usable vision.
For a reputable Australian website with authoritative information on blindness, you can visit Vision Australia (https://www.visionaustralia.org/). Vision Australia is a leading national provider of blindness and low vision services in Australia. The website provides information about vision loss, support services, accessibility tools, and resources for individuals with vision impairment, their families, and professionals working in the field. The organization aims to support people who are blind or have low vision to live the life they choose by offering assistance, resources, and advocacy.
Blue cone monochromatism
Blue cone monochromatism (BCM) is a rare inherited eye disorder that affects the cone cells in the retina, specifically the blue-cone photoreceptors. The condition is characterized by a reduced ability to discriminate colors and a decreased sensitivity to bright light, often resulting in reduced visual acuity and nystagmus (involuntary eye movements). BCM is caused by mutations in the OPN1LW and OPN1MW genes, which are responsible for producing the proteins that help with color perception.
A reputable Australian website with authoritative information on blue cone monochromatism is the Vision Australia website. Vision Australia is a leading national provider of blindness and low vision services in Australia. They offer support, resources, and research updates for a wide range of eye conditions, including rare ones like BCM.
Website: https://www.visionaustralia.org/
While the Vision Australia website provides comprehensive information on various eye disorders, it is recommended to consult a healthcare professional for personalized advice and the latest treatment options.
Body dysmorphic disorder
Body Dysmorphic Disorder (BDD) is a mental health condition characterized by an individual’s obsessive preoccupation with perceived flaws or defects in their physical appearance, which are often minor or unnoticeable to others. This disorder can cause significant distress and impairment in a person’s daily life, often leading to social isolation, depression, and anxiety. People with BDD may engage in repetitive behaviors, such as mirror checking, excessive grooming, or seeking reassurance about their appearance.
A reputable Australian website that offers authoritative information on Body Dysmorphic Disorder is the Australian Psychological Society (APS) website. The APS is the leading professional organization for psychologists in Australia, and their website contains a wealth of information about various mental health conditions, including BDD.
You can visit their website at: https://www.psychology.org.au
To find information specifically about Body Dysmorphic Disorder, you may need to use the search function on the website, or navigate to the section on mental health conditions.
Borderline intellectual functioning
Borderline Intellectual Functioning (BIF) refers to cognitive and intellectual functioning that falls below the average range but does not meet the criteria for an intellectual disability. Individuals with BIF generally have an IQ score between 70 and 84. They may experience difficulties in various areas, such as learning, adaptive behavior, social skills, and problem-solving.
A reputable Australian website that provides authoritative information about Borderline Intellectual Functioning is the Australian Psychological Society (APS) website. The APS is the leading professional organization for psychologists in Australia, and their website offers a wealth of resources on psychological topics, including cognitive and intellectual functioning. You can visit their website at https://www.psychology.org.au/.
To find specific information about BIF, you may need to search the site or browse through their resources related to cognitive functioning, learning disabilities, and related topics.
Keep in mind that it’s always a good idea to consult with a qualified healthcare professional if you or someone you know may be experiencing issues related to intellectual functioning. They can provide accurate assessments, appropriate interventions, and relevant support.
Brachial Plexus Injury
Brachial plexus injury refers to damage or injury to the brachial plexus, a complex network of nerves that originates from the spinal cord in the neck and extends down the arm. These nerves control the muscles of the shoulder, arm, and hand, as well as provide sensation in the upper limb. Brachial plexus injuries can range from mild to severe and may result from various causes, such as trauma during birth, sports injuries, motor vehicle accidents, or direct compression from tumors or inflammation.
Symptoms of a brachial plexus injury can include weakness, numbness, or paralysis in the affected arm, pain, and reduced range of motion. The severity of the symptoms depends on the extent of the nerve damage. Treatment options vary depending on the severity of the injury and may include physical therapy, pain management, and in some cases, surgery.
A reputable Australian website that provides authoritative information on brachial plexus injuries is the Better Health Channel, which is supported by the government of Victoria. This website offers reliable health information and resources. You can find more information about brachial plexus injuries at the following link:
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/brachial-plexus-injury
Please note that it is essential to consult a healthcare professional for personalized advice regarding diagnosis and treatment of brachial plexus injuries.
Bronchiectasis
Bronchiectasis is a chronic respiratory condition characterized by the abnormal, irreversible widening and thickening of the bronchial tubes, which are the airways that carry air in and out of the lungs. The walls of the bronchi become inflamed, leading to a buildup of mucus and recurrent lung infections. This results in persistent cough, shortness of breath, chest pain, and fatigue. Bronchiectasis can be caused by various factors, including recurring respiratory infections, cystic fibrosis, autoimmune diseases, and lung injury.
A reputable Australian website that provides authoritative information on bronchiectasis is the Lung Foundation Australia (LFA). The LFA is a leading organization dedicated to supporting individuals affected by lung diseases, promoting lung health, and advocating for improved research and treatment options. Their website offers valuable resources, including patient guides, factsheets, and educational videos on bronchiectasis and other lung-related conditions.
You can visit the Lung Foundation Australia website at: https://lungfoundation.com.au/health-professionals/conditions/bronchiectasis/
Bronchopulmonary dysplasia (BPD)
Bronchopulmonary dysplasia (BPD) is a chronic lung disorder that primarily affects premature infants who have been exposed to high levels of oxygen and/or mechanical ventilation. BPD is characterized by impaired lung growth, inflammation, and scarring of the lung tissue. Infants with BPD often experience difficulty breathing, frequent lung infections, and increased risk of long-term respiratory problems.
A reputable Australian website with authoritative information on Bronchopulmonary dysplasia is the Sydney Children’s Hospital Network (SCHN) website. SCHN is a prominent pediatric healthcare provider in Australia, and their website offers comprehensive information on various health conditions, including BPD. You can find information on BPD by visiting their website at: https://www.schn.health.nsw.gov.au/
Once on their website, you can search for “Bronchopulmonary dysplasia” or navigate to the appropriate section on respiratory conditions to access more information about BPD. Remember to consult with healthcare professionals for specific medical advice and guidance related to your individual circumstances.
Brugada syndrome
Brugada syndrome is a rare genetic disorder characterized by an abnormal heart rhythm, which increases the risk of sudden cardiac arrest and other heart-related complications. It is caused by a mutation in the genes that control the flow of sodium ions in the heart’s muscle cells, leading to abnormal electrical activity. Brugada syndrome is usually inherited, and the risk of developing it is higher in people with a family history of sudden cardiac death or unexplained fainting.
The syndrome is classified into three types based on the pattern of electrocardiogram (ECG) findings. Type 1 is the most severe and associated with the highest risk of sudden cardiac death. Brugada syndrome often goes undiagnosed due to a lack of symptoms, but some people may experience fainting, palpitations, shortness of breath, or chest pain.
To find authoritative information about Brugada syndrome in Australia, you can visit the Health Direct website. Health Direct is a reputable organization that aims to improve cardiovascular health in Australia. Their website provides evidence-based information on various heart conditions, including Brugada syndrome. You can find more about Brugada syndrome on their website at the following link: https://www.healthdirect.gov.au/brugada-syndrome
Keep in mind that although Health Direct is a reputable source, it is essential to consult a healthcare professional for personalized advice and recommendations related to any medical condition, including Brugada syndrome.
Bladder exstrophy
Bladder exstrophy is a rare congenital abnormality in which the bladder is not fully formed and is exposed on the outside of the body. It occurs when the skin and underlying tissues on the lower abdominal wall fail to develop and close properly during fetal development. This results in the bladder being exposed and urine leaking directly onto the skin. Bladder exstrophy can also involve abnormalities of the pelvic bones, muscles, and other organs in the lower abdominal area, including the reproductive and urinary systems.
Treatment for bladder exstrophy usually involves surgery to close the bladder and reconstruct the abdominal wall, as well as any other necessary procedures to correct related issues, such as epispadias or pelvic bone defects. The goal of treatment is to ensure proper function of the urinary and reproductive systems and to improve the overall quality of life.
A reputable Australian website that provides authoritative information on bladder exstrophy is the Royal Children’s Hospital Melbourne (RCH) website. The RCH is a major children’s hospital in Melbourne, Australia, and is a leader in pediatric care and research. Their website offers comprehensive information on various health conditions, including bladder exstrophy, and provides resources for families and health professionals.
You can visit the Royal Children’s Hospital Melbourne website at: https://www.rch.org.au
To find specific information on bladder exstrophy, you may need to use the search function on the site or visit their “Conditions & Treatments” section.
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Cancer
Cancer refers to a group of diseases characterized by the uncontrolled growth and spread of abnormal cells in the body. These cells can invade and damage surrounding tissues and organs, and can also spread to other parts of the body through the bloodstream or lymphatic system.
There are many different types of cancer, including lung cancer, breast cancer, prostate cancer, skin cancer, and many others. Symptoms can vary depending on the type of cancer and its location, but some common signs and symptoms include unexplained weight loss, fatigue, pain, and changes in skin color or texture.
In Australia, the Cancer Council is a reputable organization that provides authoritative information about cancer. Their website, https://cancer.org.au, has a wealth of information about different types of cancer, as well as prevention strategies, treatment options, and support services for cancer patients and their families. The Cancer Council also funds research into cancer prevention and treatment, and advocates for policies that promote healthy lifestyles and reduce cancer risk.
Cardiomyopathy
Cardiomyopathy is a group of heart disorders that affect the heart muscle, making it harder for the heart to pump blood to the rest of the body. It can be classified into different types, including dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy.
Dilated cardiomyopathy is characterized by an enlarged heart that has weakened muscles and thinning of the heart walls. Hypertrophic cardiomyopathy is a condition where the heart muscle becomes thick and stiff, making it harder for the heart to pump blood. Restrictive cardiomyopathy is a rare condition where the heart becomes stiff and less elastic, making it difficult for the heart to fill with blood. Arrhythmogenic right ventricular cardiomyopathy is a condition where the muscle of the right ventricle is replaced with fatty or fibrous tissue, leading to irregular heart rhythms.
Cardiomyopathy can be caused by various factors, including genetics, infections, alcohol abuse, drug abuse, and certain medical conditions.
A reputable Australian website with authoritative information about cardiomyopathy is the Health Direct website. Here is a link to their page on cardiomyopathy: https://www.healthdirect.gov.au/cardiomyopathy
Carpal Tunnel Syndrome
Carpal Tunnel Syndrome (CTS) is a condition that occurs when the median nerve, which runs from the forearm into the palm of the hand, becomes compressed or squeezed at the wrist. The carpal tunnel is a narrow passageway of ligament and bones at the base of the hand that houses the median nerve and tendons. When the median nerve becomes compressed, it can cause symptoms such as pain, numbness, tingling, and weakness in the hand and wrist.
Some common risk factors for developing CTS include repetitive hand and wrist movements, certain medical conditions such as diabetes and thyroid disorders, pregnancy, and obesity.
If you are looking for authoritative information about Carpal Tunnel Syndrome in Australia, the website of the Australian Government’s health department, Healthdirect, is a reputable source. The page on Carpal Tunnel Syndrome on the Healthdirect website provides information on the causes, symptoms, diagnosis, treatment options, and prevention of CTS. It also includes information on when to see a doctor and how to manage the condition. The page can be accessed using the following link:
Castleman disease
Castleman disease is a rare disease that affects the lymph nodes and related tissues. It is characterized by abnormal growth of lymphatic cells, leading to enlargement of lymph nodes, fever, night sweats, fatigue, and weight loss. There are two types of Castleman disease: unicentric and multicentric. Unicentric Castleman disease affects only one lymph node or a group of adjacent lymph nodes, while multicentric Castleman disease affects multiple lymph nodes in different parts of the body.
As for a reputable Australian website with authoritative information about Castleman disease, I recommend the Genetic Alliance Australia website. They have a dedicated page on Castleman disease that provides comprehensive information on the disease, including its symptoms, diagnosis, and treatment options. The website also offers support and resources for patients and their families. Here’s the link to their Castleman disease page: https://www.geneticalliance.org.au/conditions_detail.php?Castleman-Disease-98
Cataract
Cataract is a condition that affects the lens of the eye, causing it to become cloudy and opaque. This can result in a range of visual symptoms, including blurred or hazy vision, sensitivity to light, difficulty seeing at night, and seeing halos around lights.
Cataracts are a common condition that typically develop slowly over time, and are most commonly associated with aging. Other risk factors include exposure to UV radiation, certain medical conditions (such as diabetes), and some medications.
The treatment for cataracts is usually surgical, and involves removing the cloudy lens and replacing it with an artificial lens. Cataract surgery is generally safe and effective, and is one of the most common surgeries performed worldwide.
A reputable Australian website with authoritative information about cataracts is the Better Health website. They have a page specifically dedicated to cataracts, which can be found at the following link: https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/cataracts
This website provides information about the symptoms, causes, diagnosis, and treatment of cataracts, as well as information about what to expect before, during, and after cataract surgery. The information is written and reviewed by ophthalmologists, ensuring that it is accurate and up-to-date.
Celiac disease
Celiac disease is an autoimmune disorder that affects the small intestine. When a person with celiac disease consumes gluten, a protein found in wheat, barley, and rye, their immune system reacts by damaging the small intestine’s lining. Over time, this can lead to malabsorption of nutrients and a range of symptoms, including gastrointestinal issues, fatigue, and malnutrition.
It’s important to note that celiac disease is different from a gluten sensitivity or intolerance, which can cause similar symptoms but does not involve an autoimmune response.
A reputable Australian website with authoritative information about celiac disease is Coeliac Australia. This non-profit organization provides information and support to people with celiac disease and works to raise awareness of the condition. Their website includes information on symptoms, diagnosis, treatment, and living with celiac disease, as well as resources for healthcare professionals and a directory of gluten-free products.
You can find their website at https://www.coeliac.org.au/.
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth (CMT) disease is a group of inherited disorders that affect the nerves outside the brain and spinal cord, known as peripheral nerves. These nerves control muscle movement, sensation, and other functions in the limbs, such as the arms and legs. CMT disease is characterized by progressive muscle weakness and wasting, especially in the lower legs and feet, as well as sensory loss in the limbs.
The symptoms of CMT disease can vary widely between individuals, but typically include:
- Muscle weakness and wasting, especially in the lower legs and feet
- Foot deformities, such as high arches or flat feet
- Loss of sensation or numbness in the feet and hands
- Difficulty with fine motor skills, such as writing or buttoning clothes
- Fatigue or cramping in the affected muscles
- Loss of reflexes
CMT disease is caused by mutations in genes that are involved in the structure and function of peripheral nerves. There are several different types of CMT disease, each caused by mutations in different genes.
If you suspect you may have CMT or have a family history of the condition, it’s important to speak to your doctor or a genetic counselor for diagnosis and advice.
A reputable Australian website with authoritative information about CMT disease is the Better Health Channel website. You can find more information about CMT disease, including symptoms, diagnosis, and management, on their website at https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/charcot-marie-tooth-disease-cmt
Chronic Fatigue Syndrome (CFS)
Chronic Fatigue Syndrome (CFS), also known as myalgic encephalomyelitis (ME), is a complex and debilitating condition that causes severe and prolonged fatigue that cannot be explained by any underlying medical condition. Along with fatigue, individuals with CFS may experience a range of symptoms, such as muscle and joint pain, headaches, sleep problems, cognitive difficulties, and flu-like symptoms.
CFS is a chronic condition, which means that symptoms can last for months or even years. The cause of CFS is still unknown, and there is no known cure. Treatment options for CFS focus on managing symptoms and improving quality of life.
If you’re looking for authoritative information about CFS, one reputable Australian website is the ME/CFS Australia (SA) Inc. website (https://mecfssa.org.au/). This website provides up-to-date information on the latest research, diagnosis, and treatment of CFS, as well as resources and support for individuals living with the condition. The website is run by a non-profit organization dedicated to improving the lives of those affected by ME/CFS in Australia.
Cerebral Palsy
Cerebral Palsy (CP) is a group of neurological disorders that affect a person’s ability to control movement, posture, and coordination. It is caused by damage to the developing brain, which can occur before, during, or shortly after birth. The severity of the condition can vary significantly, with some individuals experiencing minor physical difficulties while others may have significant impairments. Common symptoms include muscle stiffness, uncontrolled movements, impaired coordination, and balance issues.
A reputable Australian website that provides authoritative information about Cerebral Palsy is the Cerebral Palsy Alliance. The Cerebral Palsy Alliance (CPA) is a leading organization in Australia dedicated to providing support, services, and resources for individuals with cerebral palsy and their families. They also conduct research and advocate for better policies and practices related to the condition.
You can find more information on their website: https://www.cerebralpalsy.org.au/
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia (CAH) is a group of inherited disorders that affect the adrenal glands, which are small glands located on top of the kidneys. These glands produce hormones that are essential for regulating various bodily functions, including salt and water balance, blood pressure, and metabolism.
In individuals with CAH, the adrenal glands produce abnormal levels of hormones, which can lead to a range of symptoms and health problems. The most common type of CAH is caused by a deficiency of an enzyme called 21-hydroxylase, which is essential for producing cortisol and aldosterone, two important hormones that regulate stress response and salt balance, respectively.
Symptoms of CAH can vary depending on the type and severity of the condition, but may include dehydration, low blood pressure, electrolyte imbalances, ambiguous genitalia in females, and early puberty in both sexes.
For more information about CAH, a reputable Australian website with authoritative information on the topic is the Better Health Channel, which is managed by the Victorian government’s Department of Health. Their page on CAH provides a detailed overview of the condition, including its causes, symptoms, diagnosis, and treatment options. Here’s the link:
Congenital disorder of glycosylation
Congenital disorders of glycosylation (CDG) are a group of genetic disorders that affect the process of adding sugars (glycosylation) to proteins and lipids in the body. This process is important for many cellular functions, including cell signaling, protein folding, and cell-cell communication.
CDG can cause a wide range of symptoms, including developmental delay, intellectual disability, seizures, liver disease, and skeletal abnormalities. There are many different types of CDG, each caused by a mutation in a different gene.
A reputable website with authoritative information about CDG is the “National Organisation of Rare Disorders (NORD)” website (https://rarediseases.org/rare-diseases/congenital-disorders-of-glycosylation/). This website provides information about CDG, including its symptoms, diagnosis, and treatment options. It also provides resources and support for individuals and families affected by CDG.
Congenital heart disease
Congenital heart disease (CHD) refers to a group of heart abnormalities that occur during fetal development and are present at birth. These abnormalities can affect the heart’s walls, valves, or blood vessels, and can cause the heart to function improperly.
CHD can range from mild to severe and can be diagnosed in infancy, childhood, or adulthood. Some forms of CHD are minor and do not require treatment, while others can be life-threatening and require immediate medical attention.
Some common types of CHD include atrial septal defect (ASD), ventricular septal defect (VSD), tetralogy of Fallot, transposition of the great arteries, and coarctation of the aorta.
It is important for individuals with CHD to receive proper medical care and follow-up, which may include medication, surgery, or other interventions.
One reputable Australian website that provides authoritative information about CHD is the Heart Foundation Australia (https://www.heartfoundation.org.au/). They have a dedicated section on their website about congenital heart disease, which includes information on the different types of CHD, diagnosis, treatment, and management. The website also provides resources and support for individuals and families affected by CHD.
Congenital ichthyosis
Congenital ichthyosis is a rare, inherited skin disorder characterized by dry, scaly, and thickened skin. It is caused by genetic mutations that affect the proteins involved in skin barrier function, leading to excessive water loss and dryness. The severity of the condition can vary widely, ranging from mild scaling to severe cases with thick, darkened plates of skin that can impair mobility and cause significant discomfort.
People with congenital ichthyosis may also experience other symptoms, such as redness, blistering, or itching of the skin, and may be more susceptible to skin infections.
For authoritative information about congenital ichthyosis, a reputable Australian website is the “Genetic Alliance Australia’.
They provide valuable information, support, and resources for individuals and families affected by ichthyosis. Their website can be found at: https://www.geneticalliance.org.au/conditions_detail.php?Tay-syndrome-congenital-ichthyosis-with-trichothiodystrophy-510
Congenital muscular dystrophy:
Congenital muscular dystrophy (CMD) is a group of inherited muscle disorders that occur at birth or in early childhood. It is caused by mutations in various genes involved in muscle development and maintenance, leading to muscle weakness, poor muscle tone, and delayed motor milestones. There are several subtypes of CMD, each with its specific features and genetic causes.
Some common symptoms of CMD include:
- Hypotonia (low muscle tone)
- Weakness in the muscles of the hips, legs, shoulders, and arms
- Joint contractures (stiff joints)
- Difficulty with motor skills, such as crawling, walking, and sitting up
- Breathing difficulties, particularly during sleep
CMD is a rare condition, and its prevalence is estimated to be 1 in 10,000 to 1 in 100,000 births. It can be diagnosed through genetic testing, muscle biopsy, and other tests.
A reputable Australian website with authoritative information about CMD is the Muscular Dystrophy Association of Australia (MDAA). The MDAA is a non-profit organization that provides support, advocacy, and information for individuals and families affected by muscular dystrophy and other neuromuscular disorders.
Their website has a dedicated page on CMD, which provides information on the different subtypes, diagnosis, management, and resources for individuals and families. The link to the CMD page is: https://mdaustralia.org.au/
Congenital myasthenic syndrome
Congenital myasthenic syndrome (CMS) is a rare genetic disorder that affects the neuromuscular junction, which is the point where nerve cells communicate with muscles. This condition causes muscle weakness and fatigue, especially during exertion. Symptoms can vary widely among affected individuals, and they can range from mild to severe.
CMS is caused by genetic mutations that affect the proteins involved in the communication between nerve cells and muscles. There are many different types of CMS, each caused by a different genetic mutation. The condition can be inherited in an autosomal dominant or recessive pattern, depending on the specific mutation.
There is currently no cure for CMS, but there are treatments available that can help manage symptoms. Treatment options may include medications, physical therapy, and respiratory support.
A reputable website with authoritative information about CMS is the National Organisation of Rare Diseases website. They have a page dedicated to CMS, which provides information about the condition, its symptoms, diagnosis, and treatment options. The page also includes links to additional resources and support organizations for individuals with CMS and their families. Here is the link to the CMS page on the NORD website: https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndromes
Congenital non-bullous ichthyosiform erythroderma
Congenital non-bullous ichthyosiform erythroderma (CIBED), also known as Congenital ichthyosiform erythroderma, is a rare genetic disorder that affects the skin’s ability to shed properly. This leads to a buildup of dry, scaly skin that can be thick, cracked, and itchy. The condition is usually present at birth or develops within the first few months of life.
CIBED is caused by mutations in the genes that provide instructions for producing proteins that are important for skin development and maintenance. It can be inherited in an autosomal dominant or autosomal recessive manner, meaning that a person with one copy of the mutated gene from one parent (dominant) or two copies from both parents (recessive) can develop the condition.
There is currently no cure for CIBED, but treatment can help manage symptoms. This may include regular use of emollients and keratolytics to soften and remove thickened skin, as well as topical or oral retinoids to reduce scaling and inflammation. Antibiotics may also be used to prevent or treat skin infections.
A reputable Australian website with authoritative information about CIBED is the Genetic and Rare Diseases Information Center (GARD) run by the Australian government. The following link provides detailed information on CIBED, including its symptoms, causes, inheritance patterns, diagnosis, and treatment options: https://rarediseases.info.nih.gov/diseases/9736/nonbullous-congenital-ichthyosiform-erythroderma
Congenital toxoplasmosis
Congenital toxoplasmosis is a condition caused by the parasitic organism Toxoplasma gondii, which is transmitted from an infected mother to her fetus during pregnancy. The severity of the condition can vary depending on the timing of the infection during pregnancy, the gestational age of the fetus, and other factors.
Symptoms of congenital toxoplasmosis can include jaundice, enlarged liver or spleen, rash, seizures, and brain calcifications. However, some infants with congenital toxoplasmosis may not show any symptoms at birth but can develop complications later in life, such as vision or hearing loss, learning disabilities, or developmental delays.
The best way to prevent congenital toxoplasmosis is to avoid exposure to the Toxoplasma gondii parasite during pregnancy. This can be done by practicing good hygiene, such as washing hands thoroughly after handling raw meat and avoiding contact with cat feces.
A reputable Australian website with authoritative information about congenital toxoplasmosis is the Australian Government Department of Health website. Here is a link to their information on the topic: https://www.health.gov.au/resources/pregnancy-care-guidelines/part-g-targeted-maternal-health-tests/toxoplasmosis
Crohn’s Disease
Crohn’s disease is a type of inflammatory bowel disease (IBD) that causes inflammation in the digestive tract. The inflammation can occur anywhere from the mouth to the anus, but it most commonly affects the small intestine and the beginning of the large intestine. Symptoms can include abdominal pain, diarrhea, weight loss, and fatigue.
The exact cause of Crohn’s disease is not known, but it is believed to be related to an overactive immune system. There may also be genetic and environmental factors that contribute to the development of the disease.
The management of Crohn’s disease typically involves medication to control inflammation, as well as changes in diet and lifestyle. In some cases, surgery may be necessary to remove damaged portions of the digestive tract.
A reputable Australian website with authoritative information on Crohn’s disease is the Crohn’s & Colitis Australia (CCA) website. The following link provides information on Crohn’s disease including causes, symptoms, diagnosis, treatment and management:
Here is the link: https://crohnsandcolitis.org.au/
Cystic Fibrosis (CF)
Cystic Fibrosis (CF) is a genetic disorder that affects primarily the lungs, pancreas, and digestive system. It causes the production of thick, sticky mucus that can clog airways and lead to chronic lung infections, difficulty breathing, and damage to the lung tissue. CF can also affect the pancreas, leading to difficulty in digesting food and absorbing nutrients.
Other symptoms of CF may include salty-tasting skin, persistent coughing, frequent lung infections, wheezing, shortness of breath, poor growth and weight gain, and bowel problems. CF is caused by mutations in the CFTR gene, which provides instructions for making a protein that regulates the movement of salt and water in and out of cells.
There is no cure for CF, but treatments can help manage symptoms and improve quality of life. Treatment may include medications, airway clearance techniques, nutritional support, and lung transplant in severe cases.
One reputable Australian website that provides authoritative information about CF is Cystic Fibrosis Australia (https://www.cysticfibrosis.org.au/). This organization is dedicated to improving the lives of people with CF through research, advocacy, and support services. Their website provides comprehensive information about CF, including diagnosis, treatment, research, and support services for people with CF and their families.
D
Dandy-Walker malformation
Dandy-Walker malformation is a rare neurological disorder that affects the brain and its fluid-filled spaces, which are called ventricles. In this disorder, the cerebellum, which is the part of the brain responsible for balance and coordination, may be underdeveloped or absent. Additionally, the fourth ventricle, which is normally located in the back of the brain, may be enlarged or misshapen.
Some common symptoms of Dandy-Walker malformation may include developmental delays, intellectual disability, seizures, and difficulty with coordination and balance. These symptoms can vary in severity depending on the extent of the malformation.
A reputable Australian website with authoritative information about Dandy-Walker malformation is the Better Health Channel, which is managed by the Victorian Government’s Department of Health. Here is a link to their information page about Dandy-Walker malformation:
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/dandy-walker-syndrome
This website provides detailed information about the causes, symptoms, diagnosis, and treatment options for Dandy-Walker malformation, as well as information about living with the condition. It is a reliable source of information that is regularly reviewed and updated by medical professionals.
Deafblindness
Deafblindness refers to a condition in which an individual has both hearing and vision impairments, which affect their ability to communicate, interact with others, and access information. The level of hearing and vision loss can vary significantly between individuals, and the impact on their daily life can range from mild to severe.
People with deafblindness may face unique challenges, such as difficulty accessing education and employment opportunities, difficulty communicating with others, and reduced access to information and services. However, with appropriate support and accommodations, many people with deafblindness are able to lead fulfilling and independent lives.
A reputable Australian website that provides authoritative information about deafblindness is the Deafblind Australia. This website offers comprehensive information about deafblindness, including its causes, diagnosis, and management, as well as resources and services available to people with deafblindness and their families. It is regularly updated by a team of experts and provides a wealth of information for anyone seeking to learn more about this condition.
Their website address is: https://www.deafblind.org.au/deafblind-information/what-is-deafblindness/
Deafness
Deafness refers to a partial or complete loss of hearing. It can affect one or both ears, and it can occur at any age. There are different types of deafness, including conductive deafness, sensorineural deafness, and mixed deafness.
Conductive deafness occurs when there is a problem with the outer or middle ear, which prevents sound from passing through to the inner ear. Common causes of conductive deafness include ear infections, earwax buildup, and damage to the eardrum or ossicles (tiny bones in the middle ear).
Sensorineural deafness occurs when there is damage to the inner ear or the auditory nerve that transmits signals from the ear to the brain. Common causes of sensorineural deafness include exposure to loud noise, aging, certain medications, and diseases like meningitis or measles.
Mixed deafness occurs when there is a combination of conductive and sensorineural deafness.
Deafness can have significant impacts on an individual’s life, including communication difficulties, social isolation, and reduced quality of life. However, there are various treatments and strategies available to help manage deafness, such as hearing aids, cochlear implants, and sign language.
A reputable Australian website with authoritative information about deafness is the Better Health Channel by the Victorian Government. You can access their information on deafness at the following link: https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/deafness
Dejerine-Sottas disease
Dejerine-Sottas disease is a rare genetic disorder that affects the nerves that control movement and sensation in the body. It is also known as hereditary motor and sensory neuropathy type III (HMSN III). The condition is characterized by muscle weakness, muscle wasting, and sensory loss in the limbs, leading to difficulty walking, gripping, and other activities.
The symptoms of Dejerine-Sottas disease typically appear in infancy or early childhood and worsen over time. The condition is caused by mutations in genes that produce proteins involved in the formation and maintenance of myelin, the protective sheath that surrounds nerve fibers.
There is currently no cure for Dejerine-Sottas disease, but treatments can help manage symptoms and improve quality of life. These may include physical therapy, occupational therapy, braces or other orthopedic devices, and medications to alleviate pain and muscle stiffness.
A reputable Australian website with authoritative information about Dejerine-Sottas disease is the Muscular Dystrophy Australia website.
Here is a link to their page on Dejerine-Sottas disease: https://www.mda.org.au/disorders/peripheral/dejerinesottas/
Dementia
Dementia is a neurological disorder that affects the brain’s ability to think, reason, and remember. It is a progressive condition that usually develops slowly over time and can result in significant cognitive impairment, affecting a person’s ability to perform everyday activities.
There are many different types of dementia, with Alzheimer’s disease being the most common. Other types include vascular dementia, dementia with Lewy bodies, frontotemporal dementia, and mixed dementia.
Symptoms of dementia can include memory loss, difficulty communicating, confusion, personality changes, and difficulty with daily activities. There is no cure for dementia, but there are treatments available that can help manage symptoms and improve quality of life.
A reputable Australian website with authoritative information about dementia is Dementia Australia (https://www.dementia.org.au/).
They provide a wide range of information and resources on dementia, including information on the different types of dementia, symptoms, diagnosis, treatment, and support services. They also offer training and education for healthcare professionals, as well as support services for people living with dementia and their families and carers.
Depression
Depression is a mood disorder that affects a person’s thoughts, feelings, and behavior. It is characterized by a persistent feeling of sadness, hopelessness, and a loss of interest in activities that were once enjoyable. Depression can interfere with a person’s ability to function in their daily life, including their work, school, and relationships. Some common symptoms of depression include:
- Feelings of sadness, emptiness, or hopelessness
- Loss of interest in activities that were once enjoyable
- Changes in appetite or weight
- Changes in sleep patterns
- Fatigue or lack of energy
- Difficulty concentrating or making decisions
- Feelings of worthlessness or guilt
- Thoughts of death or suicide
Depression can be caused by a combination of genetic, environmental, and psychological factors. It is a treatable condition, and there are a range of effective treatments available, including medication, therapy, and lifestyle changes.
A reputable Australian website with authoritative information about depression is Beyond Blue. Beyond Blue is an independent, not-for-profit organization that provides information, resources, and support for people affected by depression and other mental health conditions. They have a range of resources available on their website, including information about the symptoms of depression, how to seek help, and strategies for managing depression.
You can find their website at: https://www.beyondblue.org.au/the-facts/depression
Developmental Coordination Disorder
Developmental Coordination Disorder (DCD) is a condition that affects a person’s ability to plan and perform coordinated movements. People with DCD may have difficulty with tasks that involve motor skills, such as tying shoelaces, catching a ball, or using cutlery. This condition is often referred to as dyspraxia.
DCD is usually diagnosed in childhood and can have a significant impact on a child’s academic, social, and emotional development. The cause of DCD is not well understood, but it is thought to be related to differences in the way the brain processes information related to motor skills.
A reputable Australian website with authoritative information on DCD is the Kid Sense Child Devleopment website. This organization provides information, support, and resources for individuals with DCD, their families, and professionals working in the field.
Their website includes information about diagnosis, management, and support for DCD, as well as resources for educators and employers. Here’s the link to their website: https://childdevelopment.com.au/areas-of-concern/diagnoses/developmental-coordination-disorder-dcd/
Diabetes
Diabetes is a chronic health condition that affects the way the body uses glucose (a type of sugar) for energy. There are two main types of diabetes: type 1 and type 2.
Type 1 diabetes is an autoimmune disease in which the immune system attacks the insulin-producing cells in the pancreas, resulting in little to no insulin production. Insulin is a hormone that helps regulate blood sugar levels, and without enough insulin, blood sugar levels can become dangerously high.
Type 2 diabetes is a condition in which the body becomes resistant to insulin, or the pancreas doesn’t produce enough insulin to keep blood sugar levels within a healthy range. This type of diabetes is often associated with lifestyle factors such as obesity, lack of physical activity, and poor diet.
Both types of diabetes can lead to a range of complications, including heart disease, kidney disease, nerve damage, and blindness.
A reputable Australian website with authoritative information about diabetes is the Diabetes Australia website. Here is the link to their website: https://www.diabetesaustralia.com.au/
Diabetic retinopathy
Diabetic retinopathy is a serious complication of diabetes that affects the blood vessels in the retina (the light-sensitive tissue at the back of the eye). Over time, high blood sugar levels can damage the small blood vessels in the retina, causing them to leak or become blocked. This can lead to vision loss or even blindness.
Symptoms of diabetic retinopathy may include blurred vision, floaters, eye pain, and difficulty seeing at night. However, in its early stages, the condition may not cause any noticeable symptoms.
It’s important for people with diabetes to get regular eye exams to check for diabetic retinopathy, as early detection and treatment can help prevent vision loss.
A reputable Australian website with authoritative information about diabetic retinopathy is the Australian Diabetes Society. They have a page dedicated to information about diabetic retinopathy, including its causes, symptoms, diagnosis, and treatment options.
Here is the link to the page: https://www.diabetessociety.com.au/?s=Diabetic+retinopathy
DiGeorge syndrome
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder that results from a small piece of chromosome 22 missing. The missing piece can affect many parts of the body, including the heart, immune system, and facial features.
Individuals with DiGeorge syndrome may have various symptoms, including congenital heart disease, frequent infections, developmental delays, speech and language difficulties, learning difficulties, anxiety, and depression. The severity and combination of symptoms can vary widely between individuals.
A reputable Australian website with authoritative information about DiGeorge syndrome is the 22q Foundation. Here is a link to their page on DiGeorge syndrome:
https://www.22q.org.au/what-is-22q-1
This website provides a comprehensive overview of the syndrome, including its causes, symptoms, diagnosis, and treatment options. It also offers support resources for families affected by the syndrome, as well as information about current research and clinical trials.
Distal hereditary motor neuropathy II
Distal hereditary motor neuropathy (dHMN) is a group of inherited neurological disorders that primarily affect the motor neurons in the spinal cord and the peripheral nerves that control movement of the limbs. This condition is characterized by muscle weakness and wasting, particularly in the distal muscles of the arms and legs, which can progress over time. Symptoms may include difficulty gripping or holding objects, frequent tripping or falling, and foot drop, among others.
dHMN is a rare disorder that is typically caused by mutations in genes that are involved in the development and maintenance of motor neurons. There are several subtypes of dHMN, each of which is associated with different genetic mutations and may have distinct clinical features.
For authoritative information about dHMN, I would recommend the website of Medline Plus, which is a collaborative network of healthcare professionals, researchers, and patient support groups working to improve the diagnosis, management, and treatment of neuromuscular disorder. The Medline Plus website provides information about dHMN, including its causes, symptoms, diagnosis, and treatment options, as well as links to resources for patients and their families. Here is the link to the ANN’s page on dHMN: https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-ii/
Distal spinal muscular atrophy
Distal spinal muscular atrophy (DSMA) is a group of rare genetic disorders that affect the nerves that control the muscles in the hands, feet, lower arms, and lower legs. These disorders cause muscle weakness and wasting in the affected areas, which can progress over time.
There are several types of DSMA, each caused by mutations in different genes. The most common type is called Charcot-Marie-Tooth disease type 2 (CMT2), which affects about 1 in 2,500 people worldwide.
Symptoms of DSMA can include difficulty with fine motor skills, such as writing or buttoning clothes, and weakness in the lower legs and feet, which can cause difficulty with walking or running. There may also be sensory changes, such as numbness or tingling, in the affected areas.
If you or someone you know has symptoms of DSMA, it is important to consult a healthcare professional for a proper diagnosis and treatment plan. Genetic testing may be necessary to confirm the diagnosis.
A reputable Australian website with authoritative information about DSMA is the Spinal Muscular Atrophy Australia Inc. Their website is specifically dedicated to DSMA, which includes information on the different types of the condition, symptoms, diagnosis, treatment options, and support services.
Here is the link to the page: https://smaaustralia.org.au/
Dopa-responsive dystonia
Dopa-responsive dystonia (DRD) is a rare genetic disorder that affects the way signals are transmitted between the brain and muscles. It is caused by mutations in the GCH1 gene, which leads to a shortage of dopamine, a chemical messenger that helps control movement. The symptoms of DRD usually appear in childhood or adolescence and may include stiffness, tremors, and abnormal postures or movements. However, DRD is usually responsive to treatment with levodopa, a medication that is converted to dopamine in the brain, leading to a significant improvement in symptoms.
A reputable Australian website with authoritative information on DRD is the Genetic and Rare Diseases Information Center (GARD) website. The website provides comprehensive information about DRD, including its causes, symptoms, diagnosis, treatment options, and genetic counseling resources. Here is a link to the DRD page on the GARD website:
https://rarediseases.info.nih.gov/diseases/9817/dopa-responsive-dystonia
It is important to note that while the information on the GARD website is authoritative and reliable, it should not be used as a substitute for medical advice from a qualified healthcare professional.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21 in a person’s cells. This extra genetic material leads to developmental delays and intellectual disability, as well as a range of physical characteristics such as a flat facial profile, small head and ears, and a short neck. People with Down syndrome may also be at increased risk for certain medical conditions such as congenital heart defects and hearing loss.
A reputable Australian website with authoritative information about Down syndrome is the Down Syndrome Australia website: https://www.downsyndrome.org.au/. This website provides comprehensive and up-to-date information about the condition, including factsheets on medical and developmental issues, resources for families and educators, and advocacy initiatives. Down Syndrome Australia is a national organization that provides support and services for people with Down syndrome and their families, and the information on their website is based on current research and best practices.
Dravet syndrome
Dravet syndrome, also known as severe myoclonic epilepsy of infancy (SMEI), is a rare and severe form of epilepsy that typically starts in the first year of life. It is caused by a genetic mutation that affects the sodium channels in the brain, leading to seizures, developmental delays, and behavioral problems.
The seizures associated with Dravet syndrome are often prolonged and difficult to control with medication. They can lead to significant brain damage, cognitive impairment, and a range of other health issues.
There is currently no cure for Dravet syndrome, but treatment focuses on managing symptoms and preventing complications. This may include a combination of antiepileptic medication, seizure management plans, physical and occupational therapy, and supportive care.
For authoritative information on Dravet syndrome in Australia, I would recommend visiting the website of the Epilepsy Foundation, which is a non-profit organization dedicated to improving the lives of individuals and families affected by Dravet syndrome. The website provides up-to-date information on the condition, including research updates, treatment options, and resources for families and caregivers. Here is the link: https://epilepsyfoundation.org.au/understanding-epilepsy/epilepsy-syndromes/dravet-syndrome/
Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a genetic disorder that affects muscles, causing progressive weakness and wasting. It primarily affects boys and is caused by a mutation in the gene that produces dystrophin, a protein that is essential for muscle function. Without dystrophin, muscle cells become damaged and eventually die, leading to muscle weakness and loss.
Symptoms of DMD usually appear in early childhood, typically around the age of three. Boys with DMD may have difficulty walking, running, and climbing stairs. As the disease progresses, they may also develop respiratory and cardiac problems, which can ultimately be life-threatening.
There is currently no cure for DMD, but there are treatments that can help manage the symptoms and slow the progression of the disease. These may include medications, physical therapy, and assistive devices like braces or wheelchairs.
A reputable Australian website with authoritative information about DMD is the Muscular Dystrophy Australia (MDA) website. Here is the link to their page on Duchenne muscular dystrophy: https://www.mda.org.au/information/md101/. MDA is a non-profit organization that provides support and resources to people living with muscular dystrophy and their families, and their website is a reliable source of information on DMD and other muscular dystrophies.
Dwarfism
Dwarfism is a medical condition that causes an individual to have an adult height of 4 feet 10 inches or less. It is a result of various genetic, hormonal, or metabolic abnormalities that affect bone growth.
There are over 300 different types of dwarfism, which are categorized into two main types: proportionate dwarfism and disproportionate dwarfism. Proportionate dwarfism refers to a condition in which the body’s proportions are normal, but the individual is smaller in size. Disproportionate dwarfism, on the other hand, refers to a condition in which the limbs and other body parts are shorter than the trunk.
Some common causes of dwarfism include achondroplasia, hypochondroplasia, diastrophic dysplasia, and spondyloepiphyseal dysplasia congenita (SEDc). While there is no cure for dwarfism, treatment options such as growth hormone therapy, limb-lengthening surgery, and other supportive therapies can help manage the condition and improve quality of life.
A reputable Australian website with authoritative information about dwarfism is the Short Statured People of Australia website (https://sspa.org.au/). This website provides information on various types of dwarfism, resources for families and individuals affected by dwarfism, and advocacy efforts to promote inclusivity and accessibility for people with dwarfism. The organization also offers a supportive community and events for individuals with dwarfism and their families.
E
Ectodermal Dysplasia
Ectodermal dysplasia (ED) is a group of genetic disorders that affect the development and function of the skin, hair, teeth, nails, and sweat glands. ED can have various subtypes, and each subtype may have different symptoms, severity, and inheritance patterns. Common symptoms of ED include sparse hair, missing teeth, abnormal tooth shape, dry skin, and abnormal nails.
One reputable website that provides authoritative information about ED is the DermNet website. Their website provides a comprehensive overview of ED, including the different subtypes, symptoms, diagnosis, treatment, and support services available in Australia. The website also offers resources, such as fact sheets, research updates, and personal stories from individuals and families affected by ED.
Here is the link to the DermNet website: https://dermnetnz.org/topics/ectodermal-dysplasia
Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome (EDS) is a group of rare genetic disorders that affect the connective tissues of the body, including skin, joints, and blood vessels. The disorder can affect people in different ways, but common symptoms include joint hypermobility, skin that is easily bruised or stretched, and chronic pain.
There are several different types of EDS, each caused by a different genetic mutation. The most common type, known as hypermobile EDS, is characterized by joint hypermobility and skin that is easily bruised or stretched. Other types of EDS can cause more severe symptoms, including organ and blood vessel rupture.
Diagnosis of EDS typically involves a physical exam and genetic testing. There is no cure for EDS, but treatment can help manage symptoms and prevent complications.
A reputable website with authoritative information about EDS is the Ehlers-Danlos Society. Their website provides information about the different types of EDS, diagnosis, management and support resources for people living with the condition, as well as information about research and advocacy efforts. Here is the link to their website: https://www.ehlers-danlos.com/what-is-eds/
Ellis-van Creveld Syndrome (EVC)
Ellis-van Creveld Syndrome (EVC) is a rare genetic disorder that affects bone growth, causing short stature and deformities of the limbs, chest, and teeth. It is caused by mutations in the EVC and EVC2 genes, which are involved in the development and maintenance of the skeleton and teeth.
Other symptoms of EVC can include polydactyly (extra fingers or toes), congenital heart defects, and developmental delays. The severity and specific symptoms of EVC can vary widely between individuals.
The EVC syndrome is inherited in an autosomal recessive pattern, which means that an affected person inherits two copies of the mutated gene (one from each parent).
For authoritative information on EVC syndrome , the Mount Sinai provide some greatinformation. They have a page on rare diseases, including EVC syndrome, which provides detailed information on the condition, including its symptoms, causes, diagnosis, and management.
Here’s the link: https://www.mountsinai.org/health-library/diseases-conditions/ellis-van-creveld-syndrome
Emphysema
Emphysema is a chronic and progressive lung disease characterized by the destruction of lung tissue, particularly the air sacs called alveoli. This damage results in the loss of elasticity in the lungs, making it difficult for them to expand and contract during breathing. The symptoms of emphysema include shortness of breath, wheezing, chronic coughing, chest tightness, and difficulty breathing during physical activity.
Emphysema is typically caused by long-term exposure to irritants such as cigarette smoke, air pollution, and other environmental toxins. There is no known cure for emphysema, but treatment can help manage symptoms and slow the progression of the disease.
A reputable Australian website with authoritative information about emphysema is the Better Health Channel website. They provide detailed information about the causes, symptoms, diagnosis, and treatment of emphysema, as well as practical advice on managing the disease and improving quality of life. Here is a link to their page on emphysema: https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/emphysema
Encephalitis
Encephalitis is a medical condition characterized by inflammation of the brain tissue. The inflammation can be caused by a viral, bacterial, or fungal infection. Encephalitis can lead to a range of symptoms including fever, headache, confusion, seizures, and even coma or death in severe cases.
The symptoms of encephalitis can vary depending on the severity of the infection and the part of the brain that is affected. Some people may experience only mild flu-like symptoms, while others may experience severe neurological symptoms.
If you suspect that you or someone you know may have encephalitis, it is important to seek medical attention immediately.
One reputable Australian website with authoritative information about encephalitis is the Better Health Channel, which is run by the Victorian government’s Department of Health. Their webpage on encephalitis provides a detailed overview of the condition, its causes, symptoms, diagnosis, and treatment options. You can access this information by following this link:
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/encephalitis
Enuresis
Enuresis, also known as bedwetting, is a condition where a person involuntarily passes urine during sleep. It can occur in children as well as adults, and can have various causes such as physical, psychological or neurological factors.
In children, enuresis is considered normal up to a certain age, but if it persists beyond the age of five or six, it may indicate an underlying condition that needs to be addressed. In adults, enuresis can be a sign of an underlying medical condition, such as diabetes or bladder problems, or a side effect of medication or substance abuse.
For authoritative information about enuresis, a reputable Australian website is the Perth Children’s Hospital. They provide a comprehensive overview of enuresis, including its causes, symptoms, diagnosis, and treatment options. The website also offers advice and resources for managing enuresis, as well as support for individuals and families affected by the condition.
Here’s the link to the relevant page on their website: https://pch.health.wa.gov.au/For-health-professionals/Referrals-to-PCH/Prereferral-guidelines/Enuresis
Epidermolysis bullosa
Epidermolysis bullosa (EB) is a rare genetic condition that affects the skin and mucous membranes. People with EB have fragile skin that blisters easily in response to minor injuries, friction, or even heat. The blisters can occur anywhere on the body and can be very painful. In severe cases, the blisters can lead to scarring, disfigurement, and even death.
There are four main types of EB: simplex, junctional, dystrophic, and Kindler syndrome, and each type is caused by a different genetic mutation. The severity of the condition can vary widely, even among people with the same type of EB.
The condition is typically diagnosed through a skin biopsy and genetic testing. While there is currently no cure for EB, treatments focus on managing symptoms and preventing complications. This may involve wound care, infection prevention, and pain management.
A reputable Australian website with authoritative information about EB is the website of the Dystrophic Epidermolysis Bullosa Research Association of Australia (DEBRA Australia). Their website provides comprehensive information about EB, including its causes, symptoms, diagnosis, and treatment. They also offer support and resources for people with EB and their families. You can find their website at https://www.debra.org.au/.
Epilepsy
Epilepsy is a neurological disorder characterized by recurrent, unprovoked seizures. Seizures are caused by abnormal electrical activity in the brain, which can lead to a variety of symptoms, including convulsions, loss of consciousness, and altered sensations or emotions. Epilepsy can affect people of all ages, but it often begins in childhood or adolescence.
There are many different types of seizures and epilepsy syndromes, which can vary in severity and frequency. Treatment options include medication, surgery, and lifestyle changes, such as avoiding triggers that can cause seizures.
A reputable Australian website with authoritative information about epilepsy is Epilepsy Action Australia. This organization provides information, support, and advocacy for people with epilepsy, as well as their families and carers. Their website includes information about epilepsy diagnosis, treatment, and management, as well as resources for living with epilepsy and coping with its effects on daily life. The website also includes information about research and advocacy efforts related to epilepsy in Australia.
Here’s the link to their website: https://www.epilepsy.org.au/
Erythromelalgia
Erythromelalgia is a rare neurological condition characterized by intense burning pain, redness, and warmth in the feet or hands. It may also affect the ears, nose, and face. The symptoms may be triggered or worsened by exposure to heat, exercise, or even just by standing. The exact cause of erythromelalgia is not fully understood, but it is believed to be related to dysfunction in the blood vessels and nerves that control blood flow to the affected areas.
A reputable Australian website with authoritative information about erythromelalgia is the Australasian College of Dermatologists at https://www.dermcoll.edu.au/atoz/erythromelalgia/.
Their website offers a comprehensive guide on erythromelalgia, including information on symptoms, diagnosis, treatment, and support resources. The information on the Australasian College of Dermatologists website is reviewed by experts in the field and is regularly updated to reflect the latest research and guidelines.
Exotropia
Exotropia is a type of strabismus, or eye misalignment, in which one or both eyes turn outward. This means that when a person with exotropia tries to focus on an object, one eye will turn away from the object while the other eye remains fixed on it. This can cause problems with depth perception, as the brain may struggle to reconcile the different images it receives from each eye.
There are several possible causes of exotropia, including problems with the eye muscles, nerve damage, or issues with the brain’s control of eye movements. Exotropia can also develop as a result of long-term eye strain or fatigue.
For more information about exotropia, a reputable Australian website is the Vision West website. Here is a link to their page on exotropia: https://www.visionwest.com.au/eye-disorder-treatment/exotropia/
This page provides authoritative information about the causes, symptoms, diagnosis, and treatment of exotropia, as well as information about how the condition can be managed over the long term. It is a reliable resource for anyone seeking information about this eye condition.
F
Fabry disease
Fabry disease is a rare genetic disorder that results in the accumulation of a particular type of fat, called globotriaosylceramide (Gb3), in various organs and tissues throughout the body. The disease is caused by mutations in the GLA gene, which provides instructions for making an enzyme called alpha-galactosidase A. When this enzyme is deficient or not functioning properly, Gb3 accumulates in cells and tissues, leading to a range of symptoms and health problems.
Some of the common symptoms of Fabry disease include pain and burning sensations in the hands and feet, skin rashes, gastrointestinal issues, hearing loss, vision problems, and kidney dysfunction. The severity and progression of symptoms can vary widely among affected individuals, even within the same family.
In Australia, a reputable website with authoritative information about Fabry disease is the Fabry Support and Information Group (FSIG) Australia website. This organization is dedicated to supporting individuals and families affected by Fabry disease and providing accurate information about the condition. The website has a page specifically about Fabry disease, which includes information about the symptoms, diagnosis, treatment, and management of the condition. The page also provides links to other resources and support services for people living with Fabry disease in Australia. Here’s the link to the page:
https://www.fabry.org.au/about-fabry-disease/what-is-fabry-disease/
Facioscapulohumeral muscular dystrophy (FSHD)
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder that affects the muscles of the face, shoulders, and upper arms. It is a progressive condition, which means that symptoms worsen over time.
The condition is caused by a genetic mutation that affects the production of a muscle protein called DUX4. Normally, this protein is only produced during embryonic development, but in people with FSHD, it continues to be produced in muscle cells, causing damage and weakness.
Symptoms of FSHD can vary greatly, but typically include weakness and wasting of the muscles in the face, shoulders, and upper arms. This can lead to difficulty with activities such as lifting objects, raising the arms, and speaking clearly. In some cases, FSHD can also affect the muscles of the hips and legs.
There is currently no cure for FSHD, but treatment options are available to manage symptoms and improve quality of life.
A reputable Australian website with authoritative information on FSHD is the Muscular Dystrophy Foundation Australia. Here is a link to their page on FSHD: https://www.mda.org/disease/facioscapulohumeral-muscular-dystrophy
Factor V Leiden
Factor V Leiden is a genetic mutation that affects the blood clotting process in the body. It is the most common genetic cause of thrombophilia, a condition that increases the risk of developing abnormal blood clots.
Normally, Factor V is a protein that plays a crucial role in the blood clotting process by helping to form a clot. However, in people with Factor V Leiden, the mutated Factor V protein is resistant to the normal process of degradation, resulting in an increased likelihood of blood clots forming.
Symptoms of Factor V Leiden may include deep vein thrombosis (DVT), which is the formation of a blood clot in a deep vein, or pulmonary embolism, which is a blood clot that travels to the lungs.
It is important to note that not everyone with Factor V Leiden will develop blood clots, and some people may not even be aware that they have the mutation until they undergo testing.
For authoritative information about Factor V Leiden in Australia, a reputable website is Melbourne Haemoatology. They have a page dedicated to providing information about Factor V Leiden, including its causes, symptoms, diagnosis, and treatment options. Here is the link to their webpage on Factor V Leiden: http://www.melbournehaematology.com.au/fact-sheets/factor-v-five-leiden-mutation.html
Familial dysautonomia
Familial dysautonomia (FD), also known as Riley-Day syndrome, is a rare genetic disorder that affects the development and function of the nervous system. It primarily affects the sensory and autonomic nerves, which control involuntary bodily functions such as breathing, digestion, and blood pressure regulation. People with FD may experience a range of symptoms, including lack of tears, difficulty regulating body temperature, poor balance, and a reduced ability to feel pain or touch. They are also prone to episodes of high blood pressure and are at an increased risk of developing respiratory infections.
The disorder is caused by mutations in the IKBKAP gene, which provides instructions for making a protein called IKAP. The IKAP protein is involved in the development and function of the nervous system.
For more information about Familial dysautonomia in Australia, the Brain Foundation website is a reputable source of information. Their website provides authoritative information about genetic conditions and support services available for families and individuals affected by them.
Here is the link to their page on Familial dysautonomia: https://brainfoundation.org.au/disorders/dysautonomia/
Familial Hypercholesterolemia
Familial hypercholesterolemia (FH) is a genetic disorder that results in high levels of low-density lipoprotein (LDL) cholesterol in the blood. It is caused by a mutation in one of three genes that control LDL receptor function, leading to reduced clearance of LDL cholesterol from the blood. This can lead to a buildup of cholesterol in the arteries, increasing the risk of cardiovascular disease.
Symptoms of FH can include high cholesterol levels, premature heart disease, and fatty deposits on the skin (xanthomas). The condition is often inherited in an autosomal dominant pattern, meaning that an affected person has a 50% chance of passing on the mutation to each of their children.
For more information on familial hypercholesterolemia, a reputable Australian website with authoritative information is Sonic Genetics. Here is a link to their page on FH:
Fanconi Anemia
Fanconi Anemia is a rare genetic disorder that affects the bone marrow’s ability to produce new blood cells. It is characterized by a range of physical abnormalities, including short stature, skeletal anomalies, and a predisposition to certain cancers, especially acute myeloid leukemia and solid tumors.
Fanconi Anemia is caused by mutations in one of the genes involved in repairing damaged DNA. This leads to an accumulation of DNA damage and a failure of the bone marrow to produce enough new blood cells.
There is currently no cure for Fanconi Anemia, but treatments such as bone marrow transplants and blood transfusions can help manage the symptoms and complications of the disease.
A reputable website with authoritative information about Fanconi Anemia is the “Genetic and Rare Diseases Information Center” (GARD) Here is a direct link to their page on Fanconi Anemia: https://rarediseases.org/rare-diseases/fanconi-anemia/
The GARD website provides detailed and reliable information about rare genetic diseases, including Fanconi Anemia. It is a valuable resource for patients, families, and healthcare professionals looking for up-to-date information on diagnosis, treatment, and ongoing research into this condition.
Fibromyalgia
Fibromyalgia is a chronic disorder characterized by widespread pain in the muscles and bones, fatigue, and tenderness in localized areas. The exact cause of fibromyalgia is unknown, but it is believed to involve a complex interaction between genetic, environmental, and psychological factors.
In addition to pain and fatigue, fibromyalgia may also cause symptoms such as sleep disturbances, headaches, irritable bowel syndrome, anxiety, and depression. It is a chronic condition that can significantly impact a person’s quality of life.
One reputable Australian website with authoritative information about fibromyalgia is the Fibromyalgia Support Network of Australia (FSNA) website. They provide a range of information about fibromyalgia, including symptoms, diagnosis, treatment options, and support resources.
The link to their website is https://www.fibronetwork.org.au/.
Fragile X Syndrome
Fragile X Syndrome is a genetic condition that affects the development of a person’s cognitive, behavioral, and physical abilities. It is caused by changes in the FMR1 gene, which provides instructions for making a protein important for brain development.
Individuals with Fragile X Syndrome typically experience developmental delays, learning difficulties, social and communication challenges, and may have physical features such as a long face, large ears, and a prominent jaw. The severity of symptoms can vary widely, even among members of the same family.
There is no cure for Fragile X Syndrome, but early intervention, such as speech and occupational therapy, can help manage symptoms and improve quality of life.
A reputable Australian website with authoritative information about Fragile X Syndrome is the Fragile X Association of Australia (FXAA) website.
Here is the link: https://fragilex.org.au/.
The website provides a wealth of information about the condition, including its causes, symptoms, diagnosis, treatment, and support resources for affected individuals and their families. The information is based on the latest research and is regularly updated to ensure accuracy and relevance.
Friedreich’s ataxia
Friedreich’s ataxia is a rare genetic disorder that affects the nervous system. It is named after the German physician Nikolaus Friedreich, who first described the condition in 1863. The disorder is caused by a mutation in a gene called frataxin, which leads to a deficiency in the production of this protein. Frataxin is essential for the proper functioning of mitochondria, which are the cellular structures responsible for producing energy.
The symptoms of Friedreich’s ataxia typically begin to appear in childhood or adolescence and may include difficulty walking and maintaining balance, coordination problems, muscle weakness and wasting, vision and hearing impairment, and heart problems. The progression of the disease varies, but it can lead to significant disability and a reduced lifespan.
A reputable Australian website with authoritative information about Friedreich’s ataxia is the Friedreich Ataxia Research Association (FARA) website. FARA is a non-profit organization that supports research into the disease and provides resources for patients, families, and healthcare professionals. The website contains information about the symptoms, diagnosis, and treatment of Friedreich’s ataxia, as well as news and updates on the latest research.
Here is the link to their website: https://www.fara.org.au/
Frontotemporal dementia
Frontotemporal dementia (FTD) is a progressive neurodegenerative disorder that primarily affects the frontal and temporal lobes of the brain. The disease causes a gradual decline in behavior, personality, and language skills. FTD is the second most common form of dementia in people under 65 years old, and it accounts for about 10-15% of all dementia cases.
FTD can be categorized into three main subtypes, based on the symptoms that appear early in the disease: behavioral variant FTD (bvFTD), semantic variant primary progressive aphasia (svPPA), and non-fluent/agrammatic variant primary progressive aphasia (nfvPPA).
bvFTD is characterized by changes in behavior, social interactions, and emotions. People with bvFTD may become impulsive, insensitive, or display inappropriate behaviors, such as making inappropriate comments or actions.
svPPA is characterized by difficulty in understanding and using language, including trouble with word finding, naming objects, and understanding sentences.
nfvPPA is characterized by difficulty speaking, with people often producing speech that is slow and effortful, and with errors in grammar and word order.
There is currently no cure for FTD, and treatment focuses on managing the symptoms and improving quality of life for patients and their families.
A reputable Australian website with authoritative information about FTD is the Dementia Australia. Here is the link to their page on FTD:https://www.dementia.org.au/information/about-dementia/types-of-dementia/frontotemporal-dementia
Functional Neurological Disorder (FND)
Functional Neurological Disorder (FND) is a condition that affects the functioning of the nervous system, leading to physical symptoms that cannot be explained by a medical condition. FND can cause a wide range of symptoms, including weakness, tremors, difficulty walking, seizures, and vision problems. FND is thought to be caused by a combination of psychological and physiological factors, such as past trauma or stress, but the exact cause is still unclear.
One reputable Australian website with authoritative information about FND is FND Australia.
Their website is dedicated to FND and provides a detailed overview of the condition, including symptoms, diagnosis, and treatment options. The page also includes links to additional resources, such as support groups and research studies, that can help people better understand and manage their FND.
Here’s the link to the FND Australia’s FND page: https://fndaustralia.com.au/
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Gastroesophageal reflux disease (GERD)
Gastroesophageal reflux disease (GERD) is a chronic condition in which stomach acid flows back into the esophagus, causing a variety of symptoms such as heartburn, chest pain, difficulty swallowing, and regurgitation of food or acid. It occurs when the lower esophageal sphincter, which is the muscle that separates the esophagus from the stomach, does not function properly. This allows stomach acid to flow back up into the esophagus, irritating the lining and causing symptoms.
GERD can be diagnosed through a variety of methods, including physical examination, medical history, and tests such as endoscopy and pH monitoring. Treatment options include lifestyle modifications such as weight loss and dietary changes, medication to reduce acid production, and in severe cases, surgery.
A reputable Australian website with authoritative information about GERD is Health Direct. Their website contains comprehensive information about GERD, including its causes, symptoms, diagnosis, and treatment options. They also provide useful resources for patients and healthcare professionals, including guidelines and position statements. Here is a link to their page on GERD: https://www.healthdirect.gov.au/gord-reflux
Gerstmann-Sträussler-Scheinker syndrome
Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare, inherited, degenerative neurological disorder that affects the brain and nervous system. It belongs to a group of disorders known as prion diseases, which are caused by the accumulation of abnormal proteins called prions in the brain.
Symptoms of GSS typically develop in midlife and can include progressive dementia, ataxia (loss of coordination and balance), and spasticity (muscle stiffness). Other symptoms may include tremors, muscle twitching, and visual disturbances.
GSS is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the defective gene from either parent to develop the condition.
As for reputable website with authoritative information about GSS, I would recommend the website of the Genetic and Rare Diseases (GARD)(https://rarediseases.info.nih.gov/diseases/7690/gerstmann-straussler-scheinker-disease).
This website provides accurate and up-to-date information on prion diseases, including GSS, and offers support and resources for individuals and families affected by these conditions.
Glaucoma
Glaucoma is a group of eye conditions that cause damage to the optic nerve, which connects the eye to the brain. This damage can lead to irreversible vision loss and blindness. Glaucoma is often associated with high pressure inside the eye, but it can also occur with normal or low eye pressure.
There are several types of glaucoma, including open-angle glaucoma and angle-closure glaucoma. Open-angle glaucoma is the most common type, accounting for about 90% of cases. It develops slowly and often has no symptoms until the disease has progressed significantly. Angle-closure glaucoma, on the other hand, can develop suddenly and is characterized by a sudden onset of symptoms such as severe eye pain, headache, blurred vision, and halos around lights.
Early detection and treatment are important to prevent or slow down vision loss from glaucoma. Treatment may involve eye drops, laser surgery, or conventional surgery.
A reputable Australian website with authoritative information about glaucoma is the Glaucoma Australia website: https://glaucoma.org.au/.
The website provides comprehensive information about glaucoma, including its causes, symptoms, diagnosis, and treatment. It also offers resources and support for people with glaucoma and their families.
Glioblastoma
Glioblastoma is a type of aggressive brain cancer that can affect both adults and children. It originates in the glial cells, which are cells that support and nourish the neurons in the brain. Glioblastoma is a highly malignant tumor that grows rapidly and can infiltrate nearby brain tissue, making it difficult to remove completely with surgery. It can cause a range of symptoms depending on its location in the brain, including headaches, seizures, and changes in cognitive function.
The exact cause of glioblastoma is not known, but it is thought to be related to genetic mutations and environmental factors. Treatment for glioblastoma typically involves a combination of surgery, radiation therapy, and chemotherapy.
A reputable Australian website with authoritative information about glioblastoma is the Brain Foundation website. They have a dedicated page on glioblastoma that provides comprehensive information about the disease, including causes, symptoms, diagnosis, treatment options, and support services.
The website is regularly updated by a team of medical experts and is a trusted source of information for people affected by cancer in Australia. Here is the link to the glioblastoma page on the Brain Foundation website: https://brainfoundation.org.au/disorders/brain-tumour-cancer/
Goldenhar Syndrome
Goldenhar Syndrome, also known as oculo-auriculo-vertebral syndrome, is a rare congenital disorder that affects the development of the face, ears, and spine. The exact cause of Goldenhar Syndrome is unknown, but it is thought to be due to a combination of genetic and environmental factors.
The most common features of Goldenhar Syndrome include asymmetry of the face, abnormal development of the ears, and spinal deformities. Other possible features may include cleft lip and/or palate, eye abnormalities, hearing loss, heart defects, and kidney problems.
A reputable Australian website with authoritative information about Goldenhar Syndrome is the Better Health Channel, which is run by the Victorian government. Here is a link to their page on Goldenhar Syndrome:
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/goldenhar-syndrome
Gout
Gout is a type of arthritis caused by the accumulation of uric acid crystals in the joints, leading to painful and swollen joints. Uric acid is a waste product that is normally removed from the body through urine, but in some cases, the body produces too much uric acid or fails to excrete it properly, leading to its accumulation in the joints.
Gout typically affects the joints in the big toe, but it can also affect other joints such as the ankles, knees, wrists, and fingers. The symptoms of gout can include sudden and severe pain, swelling, warmth, and redness in the affected joint. Gout attacks can be triggered by factors such as a diet high in purines (found in foods like red meat, seafood, and alcohol), obesity, genetics, and certain medications.
One reputable Australian website with authoritative information about gout is the Arthritis Foundation of Australia. They provide comprehensive information on gout, including its causes, symptoms, diagnosis, and treatment options. Here is the link to their page on gout:
Guillain-Barre Syndrome
Guillain-Barre Syndrome (GBS) is a rare neurological disorder in which the body’s immune system attacks the peripheral nerves, causing muscle weakness, tingling, numbness, and even paralysis. The symptoms of GBS often start in the feet and legs, and then move up to the upper body, face, and arms. In severe cases, GBS can cause breathing difficulties, heart problems, and even death.
The exact cause of GBS is not known, but it is often triggered by a viral or bacterial infection, such as the flu, Zika virus, or Campylobacter jejuni bacteria.
If you suspect that you or someone you know may have GBS, it’s important to seek medical attention immediately. Treatment for GBS typically involves hospitalization, supportive care, and in some cases, medications such as corticosteroids and intravenous immunoglobulin.
A reputable Australian website with authoritative information on GBS is the Better Health Channel, which is managed by the Victorian government’s Department of Health. You can find more information about GBS, including its symptoms, causes, diagnosis, and treatment, at the following link:
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/guillain-barre-syndrome
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Hallervorden-Spatz disease
Hallervorden-Spatz disease (also known as pantothenate kinase-associated neurodegeneration, or PKAN) is a rare, inherited, progressive neurodegenerative disorder that affects the basal ganglia of the brain. It is characterized by the accumulation of iron in the brain, leading to the degeneration of nerve cells and the development of movement disorders.
Symptoms of Hallervorden-Spatz disease usually start in childhood or early adolescence and may include difficulty with movement, muscle rigidity, dystonia, speech difficulties, seizures, and cognitive decline. The disease can progress rapidly and lead to severe disability and premature death.
For authoritative information about Hallervorden-Spatz disease, the best resource in would be the website of the National Organization for Rare Disorders. Their website has a page specifically dedicated to Hallervorden-Spatz disease, which provides detailed information about the symptoms, diagnosis, and management of the condition. The page also includes links to additional resources and support groups for people with Hallervorden-Spatz disease and their families.
Here is the link to the National Organization for Rare Disorders’s page on Hallervorden-Spatz disease: https://rarediseases.org/rare-diseases/pantothenate-kinase-associated-neurodegeneration/
Hemiplegia
Hemiplegia is a condition that results in paralysis or weakness on one side of the body, typically caused by damage to the brain, spinal cord, or nerves that control movement. This condition can affect a person’s ability to walk, talk, use their limbs, and perform daily activities.
A reputable Australian website with authoritative information on hemiplegia is the Stroke Foundation. They provide information and support for people affected by stroke, including those with hemiplegia. Their website has a page dedicated to hemiplegia, which includes information on causes, symptoms, treatment, and rehabilitation. Here is the link to their hemiplegia page:
https://strokefoundation.org.au/media-centre/stroke-stories/coping-with-hemiplegia-and-hemiparesis
Hemochromatosis
Hemochromatosis is a genetic disorder in which the body absorbs and stores too much iron from the diet. This excess iron builds up in various organs and tissues, including the liver, heart, pancreas, and skin. Over time, this can lead to organ damage and a range of health problems, such as liver disease, diabetes, heart disease, and arthritis.
Hemochromatosis is caused by mutations in genes that regulate iron absorption and metabolism. The most common form of the condition is known as hereditary hemochromatosis and is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
The symptoms of hemochromatosis can vary widely, and some people may not experience any symptoms at all. Common signs and symptoms may include fatigue, joint pain, abdominal pain, liver disease, and skin discoloration.
If left untreated, hemochromatosis can lead to serious complications, including liver failure, heart disease, and even death. However, early diagnosis and treatment can help manage the symptoms and prevent these complications.
A reputable Australian website with authoritative information about hemochromatosis is the Hemochromatosis Australia website (https://www.ha.org.au/). This website provides comprehensive information about the condition, including its causes, symptoms, diagnosis, and treatment. It also offers resources and support for people with hemochromatosis, as well as their families and healthcare providers.
Hemolytic anemia
Hemolytic anemia is a type of anemia that occurs when the red blood cells are destroyed faster than the bone marrow can produce new ones. This can be due to an underlying condition, an inherited disorder, or as a side effect of medication or exposure to certain toxins.
Symptoms of hemolytic anemia can include fatigue, shortness of breath, pale skin, jaundice, and an enlarged spleen. Treatment can depend on the underlying cause but may include medications, blood transfusions, or surgery.
A reputable Australian website with authoritative information about hemolytic anemia is the National Blood Authority website. They have a comprehensive section on hemolytic anemia, including information about the causes, symptoms, and treatment options. Here is the link: https://www.blood.gov.au/document/autoimmune-haemolytic-anaemiaaiha-pdf
Hemophilia
Hemophilia is a rare genetic disorder that affects the blood’s ability to clot. People with hemophilia have low levels or a complete absence of certain clotting proteins in their blood, which can lead to excessive bleeding even from minor injuries. There are different types of hemophilia, depending on which clotting factor is deficient, with the two most common being hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency).
Symptoms of hemophilia may include excessive bleeding from cuts or injuries, frequent nosebleeds, bruising easily, and joint pain and swelling. Treatment typically involves replacing the missing clotting factor through regular infusions or injections, as well as managing bleeding episodes with medications and other therapies.
For authoritative information on hemophilia in Australia, the Hemophilia Foundation Australia (HFA) is a reputable website that provides comprehensive information and resources for people with hemophilia, their families, and healthcare professionals. You can find their website at:
Hemorrhagic stroke
Hemorrhagic stroke is a type of stroke that occurs when a blood vessel in the brain ruptures, causing bleeding and damage to the surrounding brain tissue. This can lead to neurological deficits, such as weakness or paralysis, speech difficulties, and cognitive impairment.
There are two main types of hemorrhagic stroke: intracerebral hemorrhage and subarachnoid hemorrhage. Intracerebral hemorrhage occurs when a blood vessel within the brain bursts, while subarachnoid hemorrhage occurs when a blood vessel on the surface of the brain ruptures and blood flows into the space between the brain and the skull.
Symptoms of a hemorrhagic stroke can include sudden and severe headache, weakness or numbness on one side of the body, difficulty speaking or understanding speech, and loss of vision or double vision.
For authoritative information on hemorrhagic stroke in Australia, the Stroke Foundation Australia website is a reputable source of information. Here is the link to their page on hemorrhagic stroke: https://strokefoundation.org.au/about-stroke/learn/what-is-a-stroke/haemorrhagic-stroke-bleed-in-the-brain
Hereditary angioedema
Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurring episodes of severe swelling beneath the skin or mucosal surfaces. These episodes typically involve the face, limbs, gastrointestinal tract, and airway, and can be life-threatening if the swelling occurs in the throat or tongue. HAE is caused by a deficiency or dysfunction of the C1 inhibitor protein, which normally helps regulate the immune system’s response to inflammation.
The symptoms of HAE can vary widely, both in terms of their severity and frequency. Some individuals may experience only occasional mild swelling, while others may have frequent episodes of severe swelling that significantly impact their quality of life. The condition is typically diagnosed through a combination of medical history, physical examination, and blood tests to measure levels of C1 inhibitor and other proteins involved in the immune system’s response to inflammation.
Treatment for HAE may include medications to prevent or reduce swelling, such as C1 inhibitor replacement therapy, bradykinin receptor antagonists, and kallikrein inhibitors. It is also important for individuals with HAE to have an emergency plan in place in case of a sudden onset of swelling, which may involve self-administration of medication and prompt medical attention.
One reputable Australian website with authoritative information about HAE is the Australasian Society of Clinical Immunology and Allergy (ASCIA) website. Their page on HAE provides comprehensive information about the condition, including symptoms, diagnosis, treatment options, and emergency management. You can access the page here: https://www.allergy.org.au/patients/immunodeficiencies/hae
Huntington’s disease
Huntington’s disease is a rare genetic disorder that affects the brain, causing progressive degeneration of nerve cells in certain regions of the brain, leading to physical, cognitive, and behavioral symptoms. Symptoms of Huntington’s disease typically develop in middle age, but can also occur earlier or later in life. The symptoms include involuntary jerking or twitching movements, difficulty with coordination and balance, personality changes, memory problems, and difficulties with speech and swallowing.
The disease is caused by a genetic mutation on chromosome 4, which leads to the production of an abnormal form of a protein called huntingtin. The presence of this abnormal protein in the brain leads to the death of nerve cells, which causes the symptoms of the disease.
A reputable Australian website that provides authoritative information on Huntington’s disease is the Huntington’s NSW & ACT website. This website is run by the Huntington’s Disease Association of New South Wales and the Australian Capital Territory, and provides information and support to people with Huntington’s disease, their families, and caregivers. The website includes information on the symptoms and diagnosis of the disease, as well as advice on managing the disease and finding support.
The link to the Huntington’s NSW & ACT website is https://www.huntingtonsnswact.org.au/.
Hydrocephalus
Hydrocephalus is a condition that occurs when there is an abnormal accumulation of cerebrospinal fluid (CSF) in the brain’s ventricles, causing pressure and swelling. The ventricles are cavities within the brain that produce and circulate CSF. Hydrocephalus can be present at birth (congenital) or acquired later in life due to injury, infection, or tumor.
The symptoms of hydrocephalus depend on the age of the person affected, the underlying cause, and the rate of fluid buildup. In infants, hydrocephalus can cause a rapid increase in head size, irritability, vomiting, and sleepiness. In older children and adults, symptoms can include headaches, nausea, vomiting, blurred vision, difficulty walking, and memory problems.
To learn more about hydrocephalus, including its causes, symptoms, diagnosis, and treatment, you can visit the website of the Hydrocephalus Support Association (HSA) Australia. The HSA Australia is a non-profit organization that provides support, information, and advocacy for individuals with hydrocephalus and their families. Their website offers a range of resources, including fact sheets, videos, and links to other relevant organizations.
Here is the link to their website: https://hydrocephalus.org.au/
Hyperaldosteronism
Hyperaldosteronism is a medical condition characterized by excessive secretion of the hormone aldosterone by the adrenal glands, leading to high blood pressure and low levels of potassium in the blood. There are two types of hyperaldosteronism: primary and secondary.
Primary hyperaldosteronism is caused by a tumor or abnormal growth in one or both of the adrenal glands, while secondary hyperaldosteronism is caused by an underlying condition that stimulates the adrenal glands to produce more aldosterone, such as kidney disease or heart failure.
The symptoms of hyperaldosteronism can include high blood pressure, fatigue, muscle weakness, headache, and frequent urination.
For more information on hyperaldosteronism, a reputable Australian website with authoritative information is the Better Health Channel website by the Victorian Government.
Here is the link to their page on hyperaldosteronism: https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/hyperaldosteronism
Hypercalcemia
Hypercalcemia is a medical condition in which there is an abnormally high level of calcium in the blood. This condition can lead to various symptoms such as nausea, vomiting, constipation, abdominal pain, confusion, weakness, and bone pain. Hypercalcemia can be caused by a variety of factors such as overactive parathyroid glands, certain types of cancers, medications, and vitamin D intoxication.
For authoritative information about hypercalcemia, the Health Engine. Here is a link to their page on hypercalcemia: https://healthinfo.healthengine.com.au/hypercalcaemia
This page provides detailed information about the causes, symptoms, diagnosis, and treatment options for hypercalcemia. It also offers practical advice and tips for managing this condition, as well as information on when to seek medical attention.
Hypercholesterolemia
Hypercholesterolemia is a medical condition characterized by high levels of cholesterol in the blood. Cholesterol is a type of fat that is essential for the body’s proper functioning, but too much of it can lead to the formation of plaques in the arteries, which can increase the risk of heart disease and stroke.
There are two main types of cholesterol: low-density lipoprotein (LDL) cholesterol, which is often referred to as “bad” cholesterol because it can contribute to the buildup of plaques in the arteries, and high-density lipoprotein (HDL) cholesterol, which is often referred to as “good” cholesterol because it helps to remove LDL cholesterol from the bloodstream.
Hypercholesterolemia can be caused by a variety of factors, including genetics, diet, and lifestyle. Treatment usually involves lifestyle changes, such as adopting a healthier diet and increasing physical activity, as well as medication to lower cholesterol levels.
A reputable Australian website with authoritative information about hypercholesterolemia is the Stroke Foundation Australia. Here is a link to their information on high cholesterol: https://strokefoundation.org.au/about-stroke/prevent-stroke/high-cholesterol
Hyperparathyroidism
Hyperparathyroidism is a medical condition characterized by overactivity of the parathyroid glands, which are four small glands located in the neck. These glands are responsible for producing a hormone called parathyroid hormone (PTH), which helps to regulate the level of calcium in the body.
In hyperparathyroidism, the parathyroid glands produce too much PTH, leading to an excess of calcium in the bloodstream. This can lead to a variety of symptoms, including fatigue, weakness, bone pain, kidney stones, and digestive problems.
There are two types of hyperparathyroidism: primary and secondary. Primary hyperparathyroidism occurs when there is a problem with one or more of the parathyroid glands, while secondary hyperparathyroidism occurs as a result of another underlying medical condition, such as kidney disease.
To learn more about hyperparathyroidism and its symptoms, causes, diagnosis, and treatment, a reputable Australian website with authoritative information is the Better Health Channel, a government-funded website managed by the Victorian Department of Health. You can find their page on hyperparathyroidism here: https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/hyperparathyroidism.
Hyperthyroidism
Hyperthyroidism is a medical condition in which the thyroid gland produces too much thyroid hormone, leading to an overactive metabolism. The thyroid gland is a small, butterfly-shaped gland located in the neck, and it produces hormones that regulate the body’s metabolism. Hyperthyroidism can be caused by a variety of factors, including an autoimmune disorder called Graves’ disease, thyroid nodules, or inflammation of the thyroid gland.
Symptoms of hyperthyroidism can include weight loss, rapid heartbeat, nervousness, sweating, and increased sensitivity to heat. If left untreated, hyperthyroidism can lead to serious health complications such as heart disease, osteoporosis, and vision problems.
A reputable Australian website with authoritative information about hyperthyroidism is the Thyroid Foundation of Australia. Their website provides a wealth of information about hyperthyroidism, including its causes, symptoms, diagnosis, and treatment options. They also provide support and resources for individuals who are living with hyperthyroidism.
Here is the link to their page on hyperthyroidism:
https://www.thyroidfoundation.org.au/thyroid-information/hyperthyroidism/
Hypoglycemia
Hypoglycemia is a condition characterized by abnormally low levels of glucose (sugar) in the blood. It can occur when someone with diabetes takes too much insulin or other glucose-lowering medications, skips a meal, or engages in excessive physical activity. Symptoms of hypoglycemia can include shakiness, sweating, anxiety, dizziness, confusion, and in severe cases, seizures and loss of consciousness.
For authoritative information on hypoglycemia in Australia, I suggest visiting the Health Direct website at https://www.healthdirect.gov.au/hypoglycaemia-low-blood-sugar. This website provides information on the causes, symptoms, and treatment of hypoglycemia, as well as tips on how to prevent it from occurring. Additionally, Diabetes Australia is a reputable organization dedicated to promoting awareness and education about diabetes and related conditions, and their website provides accurate and reliable information for people living with diabetes or at risk of developing it. There website is: https://www.diabetesaustralia.com.au/
Hypopituitarism
Hypopituitarism is a medical condition in which the pituitary gland fails to produce one or more hormones. The pituitary gland is located at the base of the brain and is responsible for producing several hormones that regulate various bodily functions, including growth, reproduction, thyroid function, and adrenal function. Hypopituitarism can result from a variety of causes, including tumors, traumatic brain injury, infections, autoimmune disorders, and genetic disorders.
Symptoms of hypopituitarism can vary depending on which hormones are affected, but they may include fatigue, weight gain, decreased libido, infertility, dry skin, and intolerance to cold temperatures. Treatment typically involves hormone replacement therapy to replace the hormones that are deficient.
A reputable Australian website with authoritative information about hypopituitarism is the Pituitary Foundation Australia. They provide accurate and up-to-date information about pituitary conditions, including hypopituitarism, along with support services for patients and their families. Here is the link to their website: https://pituitary.asn.au/
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Ichthyosis
Ichthyosis is a group of skin disorders characterized by dry, scaly, or thickened skin. These conditions are typically present at birth or develop early in life and result from genetic mutations that affect the normal process of skin cell turnover and shedding. The severity of ichthyosis varies among individuals, with some experiencing mild symptoms while others may have severe or even life-threatening complications. Common symptoms include dry, scaly skin, itching, redness, and skin fissures.
A reputable Australian website with authoritative information about ichthyosis is the Australian College of Dermatologists. This organization aims to provide support, education, and advocacy for individuals and families affected by ichthyosis, as well as promote research into the causes and treatment of the condition. Their website offers a wealth of information on ichthyosis, including factsheets, resources, and links to support groups and relevant organizations.
Link: https://www.dermcoll.edu.au/atoz/acquired-ichthyosis-late-onset-ichthyosis/
Inflammatory bowel disease (IBD)
Inflammatory Bowel Disease (IBD) is a group of chronic, inflammatory conditions affecting the gastrointestinal tract. The two main types of IBD are Crohn’s Disease and Ulcerative Colitis. While both conditions involve inflammation of the digestive system, they affect different areas and have varying symptoms. Common symptoms of IBD include abdominal pain, diarrhea, bloody stools, weight loss, and fatigue. The exact cause of IBD is still unknown, but it is thought to result from a combination of genetic, environmental, and immune system factors.
For a reputable Australian website with authoritative information about IBD, I recommend visiting the Health Direct website. GESA is a professional organization that aims to promote the science and practice of gastroenterology in Australia. They provide accurate and up-to-date information on various gastrointestinal conditions, including IBD.
Here’s the link to the Health Direct website: https://www.healthdirect.gov.au/inflammatory-bowel-disease-ibd
Intellectual Disability
Intellectual disability, also known as intellectual developmental disorder or general learning disability, is a condition characterized by significant limitations in cognitive functioning and adaptive behaviors. These limitations impact a person’s ability to learn, reason, problem-solve, and perform everyday tasks. Intellectual disability typically manifests before the age of 18 and varies in severity, with some individuals requiring extensive support while others are able to lead independent lives.
A reputable Australian website that offers authoritative information on intellectual disability is the Australian Institute of Health and Welfare (AIHW). The AIHW is an Australian Government agency that provides statistics and research on a wide range of health and welfare issues, including intellectual disability.
You can visit their website at: https://www.aihw.gov.au/
To access information specifically about intellectual disability, navigate to the “Disability” section or use their search function to find relevant resources. The AIHW is a reliable source of information and offers comprehensive and up-to-date data on intellectual disability in Australia.
Irritable Bowel Syndrome (IBS)
Irritable Bowel Syndrome (IBS) is a common functional gastrointestinal disorder characterized by chronic abdominal pain, discomfort, bloating, and changes in bowel habits. Symptoms can vary from mild to severe, and the condition affects the large intestine. The exact cause of IBS is unknown, but it is believed to be due to a combination of factors, such as alterations in gut motility, increased sensitivity of the gut, inflammation, or imbalances in gut bacteria.
For authoritative information on IBS from an Australian source, consider visiting the Dieticians Australia website. Dieticians Australia is a professional organization representing gastroenterologists and other professionals in the field of gastroenterology. Their website provides reliable and evidence-based information on a range of gastrointestinal disorders, including IBS.
Here is the link to their dedicated IBS page: https://dietitiansaustralia.org.au/health-advice/irritable-bowel-syndrome-ibs
Ischemic stroke
Ischemic stroke is a type of stroke that occurs when the blood supply to a part of the brain is obstructed, typically by a blood clot. This interruption of blood flow deprives the brain cells of oxygen and essential nutrients, causing them to die. The resulting damage can lead to long-term disabilities, depending on the affected area of the brain and the extent of cell death.
There are two main types of ischemic stroke:
- Thrombotic stroke: This type occurs when a blood clot forms within an artery supplying blood to the brain. The clot may be caused by a buildup of fatty deposits (atherosclerosis) on the arterial wall.
- Embolic stroke: This type happens when a blood clot or other debris forms elsewhere in the body and travels through the bloodstream to the brain. The clot then becomes lodged in a narrower artery and obstructs blood flow.
A reputable Australian website that provides authoritative information on ischemic stroke is the Stroke Foundation of Australia. The Stroke Foundation is a national organization committed to preventing stroke, supporting survivors, and funding research to save lives from stroke. You can find detailed information about ischemic stroke, its risk factors, and treatment options on their website:
Stroke Foundation of Australia: https://www.strokefoundation.org.au/
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Jervell and Lange-Nielsen syndrome
Jervell and Lange-Nielsen Syndrome (JLNS) is a rare genetic disorder characterized by congenital profound sensorineural hearing loss and long QT interval on an electrocardiogram (ECG). The long QT interval predisposes affected individuals to develop life-threatening abnormal heart rhythms (arrhythmias), which can lead to recurrent episodes of syncope (fainting), seizures, and sudden cardiac death. JLNS is caused by mutations in the KCNQ1 or KCNE1 genes, which play a crucial role in regulating the electrical activity of the heart and inner ear.
A reputable Australian website that provides authoritative information about Jervell and Lange-Nielsen Syndrome is the Sydney Children’s Hospitals Network (SCHN) website. They have a dedicated page on Long QT Syndrome, which also covers information on Jervell and Lange-Nielsen Syndrome. Here is the link to their website:
https://www.schn.health.nsw.gov.au/parents-and-carers/fact-sheets/long-qt-syndrome
Please note that while the information provided on this website is accurate and helpful, it is important to consult with a healthcare professional for personalized advice and recommendations related to the syndrome.
Joubert syndrome
Joubert syndrome is a rare genetic disorder that affects the development of the cerebellum, the part of the brain responsible for balance, coordination, and muscle control. It is characterized by a unique malformation of the brainstem and cerebellum, referred to as the “molar tooth sign.” This disorder impacts the central nervous system and can cause various symptoms, including hypotonia (low muscle tone), developmental delays, ataxia (lack of muscle coordination), abnormal eye movements, breathing irregularities, and intellectual disability. The severity of the symptoms can vary greatly from person to person.
A reputable website for obtaining authoritative information on Joubert syndrome is the Genetic and Rare Disease Network (GaRDN) website. GaRDN aims to provide support, resources, and information for individuals and families affected by rare genetic conditions. They collaborate with international experts, clinicians, researchers, and advocacy groups to ensure their content is up-to-date and reliable.
You can find more information on Joubert syndrome through the following link: https://rarediseases.info.nih.gov/diseases/6802/joubert-syndrome
Juvenile idiopathic arthritis
Juvenile idiopathic arthritis (JIA) is a chronic autoimmune disorder that affects children under the age of 16. It is characterized by inflammation of the joints, which can cause pain, swelling, stiffness, and limited mobility. JIA is the most common form of arthritis in children and adolescents, and its cause is not yet fully understood. There are several subtypes of JIA, including oligoarticular, polyarticular, and systemic-onset JIA, which differ in the number of affected joints and accompanying symptoms.
For authoritative information about Juvenile idiopathic arthritis in Australia, you can visit the Australian Rheumatology Association’s website. The Australian Rheumatology Association (ARA) is a professional organization representing rheumatologists and other healthcare professionals involved in the care of individuals with arthritis and related musculoskeletal conditions. The ARA provides accurate and up-to-date information on various rheumatic diseases, including JIA.
Here is a link to the ARA’s Juvenile Idiopathic Arthritis webpage:
https://arthritisaustralia.com.au/types-of-arthritis/juvenile-idiopathic-arthritis/
Juvenile myoclonic epilepsy
Juvenile myoclonic epilepsy (JME) is a common form of epilepsy that typically begins during adolescence. It is characterized by sudden, involuntary muscle contractions or jerks, which mostly occur in the arms and sometimes in the legs as well. The jerks are called myoclonic seizures, and they generally occur upon waking up or shortly thereafter. Individuals with JME may also experience other types of seizures, such as generalized tonic-clonic (grand mal) seizures and absence seizures. The cause of JME is believed to involve genetic factors, and it is often managed with antiepileptic medications to control seizures.
For authoritative information about JME in Australia, the Epilepsy Foundation website is a reputable source. They provide a wide range of information and support for people living with epilepsy and their families. The website can be accessed through the following link:
Epilepsy Action Australia: https://epilepsyfoundation.org.au/understanding-epilepsy/epilepsy-syndromes/juvenile-myoclonic-epilepsy-jme/
Juvenile onset Huntington’s disease
Juvenile onset Huntington’s disease (HD) is a rare, inherited neurodegenerative disorder that affects children and teenagers. It is caused by a genetic mutation in the HTT gene, which leads to the production of an abnormal version of the huntingtin protein. This abnormal protein causes damage to brain cells, particularly in the areas associated with movement, cognition, and emotional functioning.
Symptoms of juvenile onset HD may include motor dysfunction, cognitive decline, behavioral changes, and psychiatric issues. These symptoms generally progress over time and can be severely debilitating. Juvenile onset HD is more aggressive and progresses faster than adult onset HD.
A reputable Australian website that provides authoritative information about juvenile onset Huntington’s Western Australia. Their website contains information on the disease, support resources, and research updates.
You can visit their website at: https://www.huntingtonswa.org.au/information/what-is-hd/juvenile/
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Kallmann syndrome
Kallmann syndrome is a genetic disorder that affects the production of certain hormones responsible for sexual development and puberty. The syndrome is characterized by hypogonadotropic hypogonadism (a condition where the gonads produce little or no sex hormones) and anosmia (a reduced or absent sense of smell). The syndrome may cause delayed puberty, small genitals, and infertility. Kallmann syndrome is caused by mutations in specific genes that affect the migration of olfactory nerve cells and neurons responsible for the production of gonadotropin-releasing hormone (GnRH). Both males and females can be affected by this condition.
A reputable Australian website that provides authoritative information about Kallmann syndrome is the Royal Children’s Hospital. They provide genetic counseling and clinical management for individuals and families affected by genetic disorders. Their website contains detailed information on a range of genetic conditions, including Kallmann syndrome.
Here’s the link to their website: https://www.rch.org.au/kidsinfo/fact_sheets/Kallmann_syndrome_an_overview/
Kearns-Sayre syndrome
Kearns-Sayre Syndrome (KSS) is a rare neuromuscular disorder characterized by the progressive loss of muscle and nerve function. It is a type of mitochondrial disease caused by mutations in the mitochondrial DNA. The syndrome typically manifests before the age of 20 and is associated with symptoms such as progressive external ophthalmoplegia (PEO), which leads to drooping eyelids (ptosis) and weakness in eye muscles, pigmentary retinopathy, and heart conduction defects. Additional symptoms may include muscle weakness, hearing loss, ataxia, and endocrine dysfunction. Treatment for KSS primarily focuses on managing the symptoms and addressing the associated complications.
For authoritative information about Kearns-Sayre Syndrome in Australia, you can visit the Muscular Dystrophy Australia website at the following link: https://www.mda.org.au/disorders/mitochondrialmyopathy/kss/
Klinefelter syndrome
Klinefelter syndrome is a genetic condition affecting males, caused by the presence of an extra X chromosome (XXY) instead of the typical male chromosome pattern (XY). This condition occurs in about 1 in every 500 to 1,000 male births. Klinefelter syndrome can result in a range of physical, cognitive, and developmental symptoms. Some common symptoms include small testicles, low testosterone levels, reduced muscle mass, decreased body and facial hair, enlarged breast tissue (gynecomastia), and infertility. In addition to physical symptoms, some individuals with Klinefelter syndrome may experience learning difficulties and social or emotional challenges.
A reputable Australian website with authoritative information on Klinefelter syndrome is Australian X and Y Spectrum Support. They provide a detailed fact sheet on Klinefelter syndrome, including information on its causes, diagnosis, treatment, and support resources.
You can access the link here: https://axys.org.au/x-and-y-variants-2/xxy-klinefelter-syndrome/
Korsakoff syndrome
Korsakoff syndrome is a neurological disorder that primarily affects individuals with a history of chronic alcohol abuse. It is characterized by severe memory problems, particularly with short-term memory, along with other cognitive and neurological symptoms.
The condition is caused by a deficiency of thiamine (vitamin B1) in the brain due to chronic alcohol use, which can lead to damage to the brain’s memory centers, such as the thalamus and mammillary bodies.
If you or someone you know is struggling with alcohol abuse and may be at risk for Korsakoff syndrome, it is essential to seek medical attention immediately.
A reputable Australian website with authoritative information about Korsakoff syndrome is Dementia Australia.
You can find more information about Korsakoff syndrome on their website here: https://www.dementia.org.au/about-dementia/types-of-dementia/alcohol-related-dementia
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Laryngeal dystonia
Laryngeal dystonia, also known as spasmodic dysphonia, is a rare neurological disorder that affects the muscles of the voice box or larynx. It can cause difficulty speaking, with the voice often sounding strained, strangled, or interrupted. Laryngeal dystonia is usually a lifelong condition, and while there is no cure, it can be managed with treatments such as speech therapy, botulinum toxin injections, or surgery.
A reputable Australian website with authoritative information about laryngeal dystonia is the Better Health Channel, which is managed by the Victorian government’s Department of Health. Here is the link to the Better Health Channel’s page on spasmodic dysphonia: https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/spasmodic-dysphonia.
This page provides detailed information about the causes, symptoms, diagnosis, and treatment options for laryngeal dystonia, as well as tips for coping with the condition.
Laryngomalacia
Laryngomalacia is a common condition that affects infants, where the tissues of the larynx (voice box) are soft and floppy, causing breathing difficulties. The condition is caused by the immaturity of the laryngeal cartilage, which can cause the airway to collapse during breathing, making it harder for the baby to breathe properly.
Symptoms of laryngomalacia include noisy breathing (stridor), difficulty feeding, and poor weight gain. In most cases, laryngomalacia resolves on its own as the baby’s larynx matures, but in some cases, treatment may be necessary to help manage the symptoms.
If you are looking for reputable Australian websites with authoritative information about laryngomalacia, Nationwide Children’s is a reliable source. The hospital has a comprehensive website with information on various pediatric conditions, including laryngomalacia. Here is the link to the webpage on laryngomalacia:
https://www.nationwidechildrens.org/conditions/laryngomalacia
Leukemia
Leukemia is a type of cancer that starts in the blood-forming cells of the bone marrow, leading to the production of abnormal white blood cells. These abnormal cells don’t function properly and crowd out healthy cells in the bone marrow, leading to a weakened immune system, anemia, and other symptoms. There are several types of leukemia, including acute lymphoblastic leukemia, chronic lymphocytic leukemia, acute myeloid leukemia, and chronic myeloid leukemia.
If you’re looking for authoritative information about leukemia in Australia, the Cancer Council Australia website is a reputable source. You can find information about the different types of leukemia, symptoms, diagnosis, treatment options, and support services. Here’s a link to the leukemia page on their website:
https://www.cancer.org.au/about-cancer/types-of-cancer/leukaemia.html
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy (LGMD) is a group of genetic disorders that primarily affect the muscles around the hips and shoulders. These disorders cause progressive muscle weakness and wasting, leading to difficulties with mobility and daily activities. There are several subtypes of LGMD, each with its own specific genetic cause and pattern of muscle involvement.
Symptoms of LGMD may include difficulty climbing stairs, rising from a seated position, lifting objects, and maintaining balance. The age of onset, rate of progression, and severity of symptoms can vary depending on the subtype of LGMD.
The diagnosis of LGMD typically involves a combination of clinical evaluation, genetic testing, and imaging studies. There is currently no cure for LGMD, but treatment may include physical therapy, orthopedic interventions, and supportive care to manage symptoms.
For more information about LGMD and its management, a reputable Australian website is the Muscular Dystrophy Australia (MDA) website. Here is the link to the LGMD information page on their website:
Lipodystrophy
Lipodystrophy is a rare medical condition that affects the body’s ability to produce and store fat properly. People with lipodystrophy have either too little or too much body fat, and this can lead to a range of health problems, including insulin resistance, diabetes, and high triglyceride levels.
Lipodystrophy can be inherited or acquired, and it may affect different parts of the body, such as the arms, legs, face, or trunk. It can also be associated with other conditions, such as metabolic syndrome or HIV infection.
For authoritative information about lipodystrophy in Australia, the best resource to consult would be the Australasian College of Dermatologists. This site provides up-to-date information about the condition, its diagnosis, and management.
The website is: https://www.dermcoll.edu.au/atoz/lipodystrophy/.
It is a reputable source of information about lipodystrophy and is maintained by a team of medical professionals and researchers in the field.
Lumbar spinal stenosis
Lumbar spinal stenosis is a medical condition that occurs when the spinal canal narrows in the lower back, putting pressure on the spinal cord and nerves. This pressure can cause a range of symptoms, including pain, numbness, tingling, and weakness in the lower back, legs, and feet.
As people age, wear and tear on the spinal discs can cause them to bulge or herniate, leading to spinal stenosis. Other causes include congenital abnormalities, spinal tumors, and spinal injuries.
A reputable Australian website with authoritative information about lumbar spinal stenosis is Precision Health. You can find information on the causes, symptoms, diagnosis, and treatment of this condition on their website at the following link: https://www.precisionhealth.com.au/healthcare-services/pain-management/conditions-treated/spinal-conditions/lumbar-spinal-stenosis/
Lupus
Lupus, also known as systemic lupus erythematosus (SLE), is an autoimmune disease that can affect any part of the body. In lupus, the immune system attacks healthy tissues and organs, leading to inflammation, pain, and damage.
The symptoms of lupus can vary widely, but common symptoms include fatigue, joint pain and swelling, skin rashes, fever, and weight loss. The severity of symptoms can also vary from person to person, and may come and go over time.
There is no cure for lupus, but treatments can help manage symptoms and prevent complications. Treatment may include medications to reduce inflammation and suppress the immune system, as well as lifestyle changes such as getting enough rest, eating a healthy diet, and avoiding triggers that can worsen symptoms.
A reputable Australian website with authoritative information about lupus is Lupus Association of NSW Inc. This website provides information about lupus, including symptoms, diagnosis, treatment, and support services for people with lupus and their families. The website also has a range of resources, including fact sheets, newsletters, and links to other lupus-related websites. Here is the link:
Lyme disease
Lyme disease is a tick-borne illness caused by a bacterium called Borrelia burgdorferi. The symptoms of Lyme disease can vary, but commonly include fever, headache, fatigue, and a characteristic bull’s-eye rash. If left untreated, Lyme disease can lead to more serious complications, including joint pain and neurological problems.
In Australia, Lyme disease is not as common as it is in other parts of the world, and there is ongoing debate about whether or not it exists in the country. However, some Australians have reported contracting Lyme disease while traveling overseas.
If you are looking for authoritative information about Lyme disease in Australia, the best resource is probably Lyme Disease Association of Australia.
Their website is: https://www1.health.gov.au/internet/main/publishing.nsf/Content/ohp-lyme-disease.htm
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Macular degeneration
Macular degeneration, also known as age-related macular degeneration (AMD), is a common eye condition that affects the macula, the central part of the retina responsible for sharp, central vision. This degeneration causes a decline in central vision and can lead to vision loss if left untreated. There are two types of AMD: wet (neovascular) and dry (atrophic). Dry AMD is more common, while wet AMD tends to progress more rapidly and can cause significant vision loss.
For authoritative information on macular degeneration, one reputable Australian website is the Macular Disease Foundation Australia (MDFA). The MDFA is a non-profit organization dedicated to raising awareness, providing education, and funding research on macular diseases, including macular degeneration.
You can visit their website here: https://www.mdfoundation.com.au
On the MDFA website, you will find comprehensive information about macular degeneration, including symptoms, causes, risk factors, diagnosis, treatment, and management. Additionally, the website provides resources and support services for individuals living with macular degeneration and their families.
Meniere’s disease
Meniere’s disease is a chronic disorder of the inner ear, specifically affecting the vestibular system and hearing functions. It is characterized by episodes of vertigo (a sensation of spinning), fluctuating hearing loss, tinnitus (ringing or other sounds in the ear), and a feeling of fullness or pressure in the affected ear. The exact cause of Meniere’s disease is not well understood, but it is believed to be associated with an abnormal buildup of fluid (endolymph) in the inner ear.
A reputable Australian website with authoritative information about Meniere’s disease is the Health Direct website. Here’s the link to the Meniere’s disease information page: https://www.healthdirect.gov.au/menieres-disease
On this website, you can find detailed information about the symptoms, causes, diagnosis, and treatment options for Meniere’s disease, along with advice on living with the condition and support services available in Australia.
Mitochondrial disease
Mitochondrial disease is a group of disorders caused by dysfunction in the mitochondria, the energy-producing structures within cells. These disorders are often inherited and can affect multiple organs, including the brain, heart, liver, skeletal muscles, and respiratory system. The severity and symptoms of mitochondrial diseases can vary greatly, ranging from mild to severe and life-threatening. Common symptoms include muscle weakness, fatigue, difficulty with balance and coordination, developmental delays, and seizures.
For authoritative information about mitochondrial disease in Australia, the Australian Mitochondrial Disease Foundation (AMDF) is a reputable organization that provides support, advocacy, and research funding to improve the lives of those affected by these disorders. You can visit their website at: https://www.amdf.org.au/
Here, you can find a wealth of information about mitochondrial diseases, including their causes, symptoms, diagnosis, treatment options, and ongoing research efforts.
Multiple Sclerosis
Multiple Sclerosis (MS) is a chronic, autoimmune disorder that affects the central nervous system (CNS), which consists of the brain and spinal cord. The immune system mistakenly attacks the protective covering of nerve fibers, called myelin, causing inflammation and damage. This damage disrupts the normal flow of electrical impulses along the nerves, leading to a wide range of symptoms that vary from person to person.
Common symptoms of MS include muscle weakness, numbness or tingling sensations, fatigue, dizziness, balance problems, and difficulty with coordination. The progression and severity of MS can differ significantly among individuals, with some experiencing mild symptoms while others may develop significant disabilities.
One reputable Australian website that provides authoritative information about Multiple Sclerosis is MS Australia. Their official website contains a wealth of information on MS, including symptoms, diagnosis, treatments, and support services available for those affected by the condition.
MS Australia: https://www.msaustralia.org.au
By visiting this website, you can learn more about MS, its management, and the latest research initiatives in the field, as well as find resources for those living with the condition and their families.
Muscular Dystrophy
Muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness and degeneration. These conditions are caused by mutations in genes responsible for the production of proteins vital for muscle function, particularly in muscle cells. There are several types of muscular dystrophy, including Duchenne, Becker, Limb-girdle, Facioscapulohumeral, and others. Symptoms and severity can vary greatly among the different types, and they typically worsen over time, leading to various complications, including difficulty walking, breathing, and heart problems.
A reputable Australian website with authoritative information about muscular dystrophy is Muscular Dystrophy Australia (MDA). This organization is dedicated to providing support, advocacy, and resources for individuals and families affected by muscular dystrophy. The MDA website contains extensive information about various types of muscular dystrophy, research updates, treatment options, and support services available in Australia.
You can visit their website at:
Myasthenia gravis
Myasthenia gravis is an autoimmune neuromuscular disorder characterized by weakness and rapid fatigue of the voluntary muscles. This occurs due to a breakdown in communication between the nerves and muscles at the neuromuscular junction. The immune system mistakenly produces antibodies that target and block or destroy acetylcholine receptors, which are necessary for the transmission of nerve signals to the muscles. As a result, muscle contraction is impaired, leading to muscle weakness and fatigue.
Common symptoms of myasthenia gravis include drooping eyelids (ptosis), difficulty swallowing (dysphagia), slurred speech (dysarthria), difficulty breathing (dyspnea), and weakness in the limbs. The severity of symptoms varies among individuals, and the condition may have periods of remission and exacerbation.
A reputable Australian website for authoritative information about myasthenia gravis is the Myasthenia Gravis Association of Queensland (MGAQ). The MGAQ aims to provide support, information, and advocacy for people affected by myasthenia gravis in Queensland and Australia. They have a range of resources, including newsletters, event announcements, and personal stories from people living with myasthenia gravis.
Here is the link to their website: http://www.mgaq.org.au/
Please note that while the information on this website is generally reliable, it is always best to consult a medical professional for personalized advice on diagnosis and treatment.
Mycobacterium avium complex (MAC) infection
Mycobacterium avium complex (MAC) infection is a group of infections caused by two species of bacteria: Mycobacterium avium and Mycobacterium intracellulare. These bacteria are part of the nontuberculous mycobacteria (NTM) group and are found in various environmental sources, including water, soil, and dust. MAC infections can affect people with weakened immune systems, such as those with HIV/AIDS or individuals undergoing immunosuppressive therapy. In some cases, MAC infections can also affect individuals with pre-existing lung diseases or other underlying health conditions.
Symptoms of MAC infections can vary depending on the organ affected. Pulmonary infections can cause cough, fever, weight loss, and fatigue, while disseminated infections can result in fever, weight loss, anemia, and night sweats. Treatment for MAC infections usually involves a combination of antibiotics, with the specific drugs and duration of treatment depending on the severity of the infection and the patient’s overall health.
For authoritative information about Mycobacterium avium complex (MAC) infections in Australia, I recommend visiting the Victoria Government’s Department of Health website:
Myopia
Myopia, also known as nearsightedness or short-sightedness, is a common vision condition in which objects that are close can be seen clearly, but objects farther away appear blurred. This occurs when the shape of the eye causes light rays to bend (refract) incorrectly, focusing images in front of the retina instead of directly on it. The exact cause of myopia is not fully understood, but it is believed to involve a combination of genetic and environmental factors. Myopia can be corrected with prescription glasses, contact lenses, or refractive surgery.
A reputable Australian website that provides authoritative information about myopia is Vision Eye Institute, one of Australia’s leading providers of ophthalmic services. You can find information about myopia on their website at this link: https://www.visioneyeinstitute.com.au/eye-conditions/myopia-nearsightedness/
Here, you will find detailed information about the causes, symptoms, diagnosis, and treatment options for myopia, as well as insights from experienced ophthalmologists.
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Narcolepsy
Narcolepsy is a chronic neurological disorder that affects the brain’s ability to regulate sleep-wake cycles. People with narcolepsy experience excessive daytime sleepiness and sudden, uncontrollable episodes of falling asleep, which may occur during any type of activity and at any time of the day. Other common symptoms include cataplexy (a sudden loss of muscle tone triggered by strong emotions), sleep paralysis, and hypnagogic hallucinations (vivid dream-like experiences that occur while falling asleep or waking up).
For a reputable Australian website with authoritative information on narcolepsy, I recommend visiting the Sleep Health Foundation, a leading national authority on sleep health in Australia. You can find more information about narcolepsy, including its symptoms, causes, diagnosis, and treatment, on their dedicated narcolepsy page:
Sleep Health Foundation – Narcolepsy: https://www.sleephealthfoundation.org.au/narcolepsy.html
Please note that, while this information is reliable and provided by experts, it is always recommended to consult a healthcare professional for personalized advice and guidance.
Necrotizing enterocolitis
Necrotizing enterocolitis (NEC) is a severe gastrointestinal disease that primarily affects premature infants. The condition involves inflammation and necrosis (death) of the intestines’ tissue, often affecting the bowel or colon. The exact cause of NEC is not fully understood, but it is believed to involve a combination of factors, including immature digestive systems, abnormal bacterial growth in the gut, and compromised blood flow to the intestines.
Common symptoms of NEC include abdominal swelling or tenderness, feeding intolerance, bloody stools, lethargy, and temperature instability. Early diagnosis and treatment are critical, as the condition can rapidly progress, leading to severe complications like sepsis, intestinal perforation, and even death.
One reputable Australian website that provides authoritative information on Necrotizing enterocolitis is the Emergency Care Institute. They offer resources on a wide range of children’s health issues, including NEC. Here’s the link to their page dedicated to NEC:
https://aci.health.nsw.gov.au/networks/eci/clinical/clinical-tools/gastroenterology/colitis/nec
Necrotizing fasciitis
Necrotizing fasciitis is a rare but severe bacterial infection that affects the soft tissue beneath the skin, particularly the fascia, which is the connective tissue that surrounds muscles, nerves, and blood vessels. The infection can spread rapidly, causing tissue death (necrosis) and systemic toxicity. Early symptoms may include redness, swelling, and severe pain at the infection site, and fever. As the infection progresses, the skin may develop dark blisters and show signs of tissue breakdown.
Necrotizing fasciitis is a medical emergency requiring prompt diagnosis and treatment, which may include antibiotics, surgical removal of dead tissue, and other supportive care measures. If not treated promptly, the infection can lead to severe complications, such as sepsis, organ failure, and death.
For authoritative information on necrotizing fasciitis in Australia, you can visit the Western Australian Child and Adolescent Health Service website. Although there isn’t a specific page dedicated to necrotizing fasciitis, their website provides a wealth of information on various health topics and guidelines, including infectious diseases:
Neurofibromatosis
Neurofibromatosis (NF) is a group of genetic disorders that primarily affect the nervous system. It causes tumors to grow on nerve tissue and can affect multiple systems in the body. There are three types of Neurofibromatosis: Type 1 (NF1), Type 2 (NF2), and Schwannomatosis. Symptoms and severity vary widely among individuals, and may include skin changes, bone deformities, pain, hearing loss, and other neurological complications.
For a reputable Australian website with authoritative information about Neurofibromatosis, you can visit the Children’s Tumour Foundation of Australia (CTF). Their website provides detailed information about the different types of NF, as well as resources and support for individuals affected by the disorder:
Children’s Tumour Foundation of Australia: https://www.ctf.org.au/
Please note that while this source is reputable and informative, it is essential to consult with a healthcare professional for personalized medical advice and guidance.
Neuromuscular disorder
Neuromuscular disorders are a group of diseases that affect the peripheral nervous system, which includes the muscles, nerves, and nerve-muscle junctions. These disorders can be inherited or acquired, and they typically result in muscle weakness, reduced mobility, and impaired coordination. Common symptoms may include muscle atrophy, difficulty breathing, swallowing, or speaking, and poor balance. There are various types of neuromuscular disorders, such as muscular dystrophies, motor neuron diseases, and peripheral neuropathies.
A reputable Australian website with authoritative information about neuromuscular disorders is the Murdoch Children’s Research Institute. The MCRI is dedicated to providing support, resources, and information for individuals and families affected by neuromuscular disorders. You can find valuable information about these conditions and related support services on their website:
Link: https://www.mcri.edu.au/impact/a-z-child-adolescent-health/m-n/neuromuscular-disorders
Please note that while this information is accurate to the best of my knowledge, it is always best to consult with a healthcare professional for personalized advice and guidance.
Noonan syndrome
Noonan Syndrome is a genetic disorder characterized by a range of distinctive facial features, congenital heart defects, short stature, and developmental delays. It is caused by mutations in various genes responsible for the proper development of various body systems. Noonan Syndrome can affect individuals differently, with symptoms ranging from mild to severe. Common features include widely spaced eyes, low-set ears, a broad and high forehead, short stature, and various heart defects. Intelligence may vary, but many individuals with Noonan Syndrome have normal intelligence, while some may experience learning disabilities or developmental delays.
A reputable Australian website with authoritative information about Noonan Syndrome is the Noonan Syndrome Awareness Association. The NSAA is dedicated to providing support, information, and education to individuals and families affected by Noonan Syndrome.
Here’s the link to the NSAA’s page on Noonan Syndrome: https://noonansyndrome.com.au/
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Obsessive-compulsive disorder (OCD)
Obsessive-Compulsive Disorder (OCD) is a mental health disorder characterized by intrusive, unwanted thoughts (obsessions) and repetitive, ritualistic behaviors (compulsions). People with OCD feel an overwhelming urge to perform these actions in an attempt to alleviate the anxiety associated with their obsessions. OCD can have a significant impact on an individual’s daily life, relationships, and overall well-being.
A reputable Australian website that provides authoritative information about OCD is Beyond Blue, a national mental health charity working to support individuals affected by mental illness. The Beyond Blue website provides comprehensive information about various mental health conditions, including OCD, and offers resources for support, education, and advocacy.
You can find more information on OCD at the following link: https://www.beyondblue.org.au/mental-health/anxiety/types-of-anxiety/ocd
Osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a group of genetic disorders that primarily affect the bones, leading to their fragility and an increased risk of fractures. OI is caused by mutations in the genes responsible for the production of collagen, a protein essential for maintaining bone strength and structure. The severity of OI can vary widely, ranging from mild cases with occasional fractures to severe cases with frequent fractures and other complications. Symptoms may include fragile bones, short stature, hearing loss, and dental issues.
In Australia, a reputable source for information on Osteogenesis imperfecta is the Osteogenesis Imperfecta Society of Australia. Their website offers resources, support, and detailed information on OI.
Osteogenesis Imperfecta Society of Australia website: https://www.oiaustralia.org.au/
Osteoarthritis
Osteoarthritis (OA) is a degenerative joint disease that occurs when the protective cartilage cushioning the ends of bones in joints gradually breaks down and wears away. This degeneration can lead to stiffness, swelling, and pain in the affected joints. Osteoarthritis is the most common form of arthritis, affecting millions of people worldwide. It is typically seen in older adults and can affect any joint, but it commonly affects weight-bearing joints such as knees, hips, and spine, as well as hands and fingers. The exact cause of osteoarthritis is not well understood, but factors such as aging, obesity, genetics, previous joint injuries, and overuse may contribute to its development.
A reputable Australian website that provides authoritative information on osteoarthritis is the Australian Arthritis Foundation. They offer extensive resources on the topic, including signs and symptoms, diagnosis, management, and treatments.
You can visit their website by clicking the following link: https://www.arthritisaustralia.com.au/types-of-arthritis/osteoarthritis/
Osteoporosis
Osteoporosis is a medical condition characterized by the loss of bone density and deterioration of bone tissue over time, leading to weakened and fragile bones. This makes individuals with osteoporosis more prone to fractures, especially in the hip, spine, and wrist. Risk factors for osteoporosis include age, gender (more common in women), family history, low body weight, lack of exercise, smoking, and excessive alcohol consumption.
For a reputable Australian website with authoritative information about osteoporosis, visit Osteoporosis Australia, which is the country’s leading non-profit organization dedicated to raising awareness, promoting research, and providing support for those affected by the condition. You can access their website through the following link:
https://www.osteoporosis.org.au/
Osteoporosis Australia offers a wealth of information on the disease, including its causes, symptoms, diagnosis, treatment, and prevention strategies. Additionally, the website provides resources such as fact sheets, videos, and support services for those living with osteoporosis or wanting to learn more about it.
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Parkinson’s disease
Parkinson’s disease is a progressive neurological disorder that affects the central nervous system. It occurs due to the degeneration of nerve cells (neurons) in a part of the brain called the substantia nigra. These neurons are responsible for producing dopamine, a neurotransmitter that plays a vital role in controlling movement, mood, and other functions. As the dopamine-producing neurons die, the brain’s ability to coordinate movement and maintain other functions becomes impaired.
The symptoms of Parkinson’s disease typically develop gradually and may include tremors, stiffness, slow movement (bradykinesia), and problems with balance and coordination. Non-motor symptoms can also arise, such as depression, cognitive changes, sleep disturbances, and gastrointestinal issues. Although the exact cause of Parkinson’s disease is unknown, it is believed that both genetic and environmental factors contribute to its development. Currently, there is no cure for Parkinson’s disease, but medications, physical therapy, and, in some cases, surgical interventions can help manage the symptoms and improve quality of life.
A reputable Australian website that provides authoritative information about Parkinson’s disease is Parkinson’s Australia. Their website offers a wealth of resources on the condition, including symptoms, diagnosis, treatments, and support services. To access their website, please visit the following link:
Progeria
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare genetic disorder that causes children to age rapidly. It is characterized by symptoms typically seen in elderly people, such as hair loss, joint stiffness, atherosclerosis, and heart problems. Progeria is caused by a mutation in the LMNA gene, which is responsible for producing the lamin A protein that plays a crucial role in the structure and function of a cell’s nucleus. The mutation leads to the production of an abnormal protein called progerin, which causes the premature aging of cells.
A reputable website that provides authoritative information about Progeria is the National Organization for Rare Disorders.
You can visit the NORD website at the following link:
https://rarediseases.org/rare-diseases/hutchinson-gilford-progeria/
For specific information on Progeria
Paraplegia
Paraplegia is a medical condition characterized by the impairment or loss of motor and/or sensory function in the lower extremities and the trunk. This results from damage to or dysfunction of the spinal cord, usually due to injuries, diseases, or congenital conditions. Paraplegics often experience varying degrees of paralysis, numbness, or tingling in their legs and torso, as well as issues with bowel, bladder, and sexual function.
In Australia, a reputable source for authoritative information on paraplegia is the Spinal Cord Injuries Australia (SCIA) website. SCIA is a leading non-profit organization dedicated to supporting people with spinal cord injuries and other similar disabilities. You can visit their website for information on paraplegia, resources, and support services:
Pervasive Developmental Disorder (PDD)
Pervasive Developmental Disorder (PDD) refers to a group of conditions characterized by delays in the development of social and communication skills. These disorders are now classified under the broader term “Autism Spectrum Disorder (ASD)” in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). The term PDD encompasses conditions such as autism, Asperger’s syndrome, and other atypical autism-related disorders. Individuals with PDD can exhibit a wide range of symptoms, including difficulties with social interaction, communication, and repetitive or restrictive behaviors.
A reputable Australian website with authoritative information about PDD is the Autism Spectrum Australia (Aspect) website. Aspect is a leading service provider and research organization, offering evidence-based information and support to individuals with autism and their families.
Website: Autism Spectrum Australia (Aspect) Link: https://www.autismspectrum.org.au/
On this website, you can find information about Autism Spectrum Disorder, early signs and diagnosis, support services, research, and resources for families and professionals.
Pneumonia
Pneumonia is a respiratory infection that primarily affects the lungs, causing inflammation and fluid buildup in the air sacs known as alveoli. It can be caused by various pathogens, including bacteria, viruses, and fungi. Symptoms of pneumonia may include cough, fever, shortness of breath, chest pain, and fatigue. The severity of pneumonia can range from mild to life-threatening, depending on factors such as the patient’s age, overall health, and the causative agent.
A reputable Australian website that provides authoritative information on pneumonia is the Lung Foundation Australia website. They offer up-to-date and accurate information on various health topics, including pneumonia. You can visit the following link for more information:
This page provides an overview of pneumonia, its causes, symptoms, prevention measures, and treatment options. It is a reliable source of information backed by the Australian Government and health professionals.
Pulmonary fibrosis
Pulmonary fibrosis is a chronic lung disease characterized by the scarring and thickening of lung tissue, which leads to a progressive decline in lung function. The scarring makes it difficult for the lungs to efficiently exchange oxygen and carbon dioxide, causing shortness of breath, persistent cough, and fatigue. Pulmonary fibrosis can result from various factors, such as long-term exposure to environmental pollutants, certain medications, radiation therapy, and autoimmune disorders. However, the cause of the disease remains unknown in many cases, which is termed idiopathic pulmonary fibrosis.
Lung Foundation Australia is a reputable organization that provides reliable and authoritative information on pulmonary fibrosis. Their website offers a wealth of resources, including detailed information on the disease, its symptoms, diagnosis, treatment options, and support for patients and families. You can visit their website at:
https://lungfoundation.com.au/patient-support/pulmonary-fibrosis/
Keep in mind that it’s essential to consult with a healthcare professional for personalized advice and guidance on managing pulmonary fibrosis or any other medical condition.
Progressive supranuclear palsy
Progressive Supranuclear Palsy (PSP) is a rare neurological disorder that affects movement, balance, vision, speech, and cognition. It is characterized by the progressive deterioration of certain brain cells, resulting in difficulties with walking, balance, and eye movements. The most common symptoms include unsteady gait, frequent falls, stiffness, difficulty moving the eyes, speech problems, and swallowing difficulties. Although PSP is often misdiagnosed as Parkinson’s disease, it has distinct differences and progresses more rapidly.
One reputable Australian website that provides authoritative information about PSP Australia. They are a leading organization that provides support, education, and advocacy for people living with movement disorders, including PSP. You can find detailed information about PSP on their website:
PSP Australia – Progressive Supranuclear Palsy Information: http://www.psp-australia.org.au/index.html
Post-traumatic stress disorder (PTSD)
Post-traumatic stress disorder (PTSD) is a mental health condition that can develop after an individual has experienced or witnessed a traumatic event, such as a natural disaster, a severe accident, a terrorist act, war or combat, physical or sexual assault, or any other life-threatening event. PTSD can cause a wide range of symptoms, including but not limited to, recurrent and distressing memories of the event, flashbacks, nightmares, avoidance of reminders of the event, negative thoughts and mood, and hyperarousal or heightened anxiety.
A reputable Australian website that offers authoritative information about PTSD is Beyond Blue, an organization that provides support and resources for people dealing with various mental health issues, including PTSD. You can find information on their website at the following link:
https://www.beyondblue.org.au/the-facts/anxiety/types-of-anxiety/ptsd
This website offers valuable information about PTSD, its symptoms, risk factors, treatment options, and how to support someone who may be experiencing PTSD. Remember to always consult a mental health professional for personalized advice and support.
Post-polio syndrome
Post-polio syndrome (PPS) is a neurological condition that affects individuals who have previously had poliomyelitis, a viral infection that targets the nervous system and can lead to paralysis. PPS typically occurs several years, even decades, after the initial infection. Symptoms of PPS include muscle weakness, fatigue, pain, and difficulty breathing or swallowing. The exact cause of PPS is not well understood, but it is thought to be related to the degeneration of nerve cells that were previously affected by the polio virus.
A reputable Australian website that provides authoritative information about post-polio syndrome is Polio Australia. Polio Australia is a non-profit organization dedicated to supporting polio survivors, raising awareness, and providing education about the late effects of polio and post-polio syndrome. You can visit their website at the following link: https://www.poliohealth.org.au/late-effects-of-polio/
On this website, you can find information about PPS, resources for managing the condition, and support services available for polio survivors in Australia.
Peripheral neuropathy
Peripheral neuropathy is a condition that affects the peripheral nerves, which are responsible for transmitting information between the brain, spinal cord, and the rest of the body. It can result from various factors such as traumatic injuries, infections, metabolic problems, inherited causes, and exposure to toxins. The most common cause is diabetes mellitus. Symptoms of peripheral neuropathy can include numbness, tingling, pain, muscle weakness, and difficulty with coordination.
A reputable Australian website that provides authoritative information about peripheral neuropathy is the Brain Foundation. The Brain Foundation is a leading organization in Australia dedicated to funding world-class research into neurological disorders, brain diseases, and injuries. Their website offers valuable resources and information on various neurological conditions, including peripheral neuropathy.
You can visit their page on peripheral neuropathy at the following link: https://brainfoundation.org.au/disorders/peripheral-neuropathy/
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Rett syndrome
Rett Syndrome is a rare neurological and developmental disorder that affects the brain’s development, causing a range of physical and cognitive challenges. It primarily affects females and is caused by a mutation in the MECP2 gene on the X chromosome. The syndrome is typically characterized by normal early development, followed by a loss of previously acquired skills and abilities, including communication, motor skills, and social interactions.
Symptoms of Rett Syndrome usually become apparent between the ages of 6 and 18 months, and may include repetitive hand movements, slow growth, cognitive impairments, seizures, and breathing difficulties. Treatment for Rett Syndrome is focused on managing symptoms and improving the quality of life for those affected, as there is currently no cure for the disorder.
In Australia, a reputable website for authoritative information on Rett Syndrome is the Rett Syndrome Association of Australia (RSAA). The RSAA is a non-profit organization dedicated to providing support, information, and resources to individuals with Rett Syndrome, their families, and healthcare professionals. You can visit their website at the following link: https://www.rettaustralia.com/
On the RSAA website, you can find information about Rett Syndrome, resources for families and caregivers, research updates, and ways to get involved in advocacy and fundraising efforts.
Rheumatoid arthritis
Rheumatoid arthritis (RA) is a chronic, autoimmune, inflammatory disease that primarily affects the joints, causing pain, swelling, stiffness, and reduced mobility. The immune system mistakenly attacks the synovium, the lining of the joints, resulting in inflammation and eventual damage to the joint and surrounding tissues. RA can also affect other organs and systems in the body, such as the heart, lungs, and blood vessels. The exact cause of RA is not fully understood, but it is believed to involve a combination of genetic and environmental factors. Treatment options for RA include medications, physical therapy, and in some cases, surgery.
A reputable Australian website that provides authoritative information on rheumatoid arthritis is the Arthritis Australia website. Arthritis offers trustworthy health information, advice, and resources for Australian residents. You can visit the page on rheumatoid arthritis through the following link:
This website provides comprehensive information about the symptoms, causes, diagnosis, and management of rheumatoid arthritis, as well as guidance on living with the condition and available support services.
Renal failure
Renal failure, also known as kidney failure, is a medical condition in which the kidneys lose their ability to effectively filter waste products and excess fluids from the bloodstream. This can lead to a dangerous buildup of waste products, electrolyte imbalances, and fluid retention. Renal failure can be classified as acute kidney injury (AKI) or chronic kidney disease (CKD) depending on the onset and duration of the condition.
Acute kidney injury occurs suddenly and is often reversible, whereas chronic kidney disease develops over time and can progress to end-stage kidney disease (ESKD), requiring dialysis or a kidney transplant. Common causes of renal failure include diabetes, high blood pressure, glomerulonephritis, and polycystic kidney disease.
For authoritative information about renal failure in Australia, you can visit the Kidney Health Australia website, a reputable non-profit organization dedicated to promoting kidney health and providing support for people affected by kidney disease. Their website offers comprehensive information on kidney failure, its causes, symptoms, diagnosis, and treatment options.
Here is the link to their website: https://kidney.org.au/
Specifically, for information on kidney disease, you can visit this page: https://kidney.org.au/your-kidneys/learn/about-kidney-disease
Reactive attachment disorder
Reactive Attachment Disorder (RAD) is a rare but serious condition that affects children who have experienced severe disruptions in their early attachments with caregivers, typically due to neglect or abuse. It is characterized by difficulty forming healthy emotional bonds with others, particularly primary caregivers. Symptoms may include withdrawal from social interactions, emotional dysregulation, lack of trust in others, and difficulty forming and maintaining relationships.
To find authoritative information on Reactive Attachment Disorder within Australia, I recommend visiting the Australian Psychological Society’s (APS) website. The APS is a reputable professional organization that represents psychologists in Australia and is dedicated to the promotion of psychological knowledge and the improvement of mental health in the country.
Here’s the link to their website: https://www.psychology.org.au/
While the APS website itself does not have a specific page dedicated to Reactive Attachment Disorder, you can use the search function to find relevant resources, articles, and professional psychologists who specialize in the condition. Additionally, you can reach out to their contact information provided on the website to ask for more specific resources or referrals.
Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability, growth problems, and broad thumbs and toes. It is caused by mutations in the CREBBP or EP300 genes, which play a crucial role in regulating gene activity during development. Symptoms may vary between individuals, but common features include a prominent forehead, down-slanting eyes, a broad nasal bridge, and a small jaw. Individuals with RTS may also experience developmental delays, speech difficulties, and an increased risk for certain health issues such as heart defects, kidney abnormalities, and susceptibility to infections.
A reputable website that provides authoritative information on Rubinstein-Taybi Syndrome is the Genetic and Rare Disease Information Centre. GARD is a nonprofit organization that supports individuals and families affected by genetic and rare diseases, and raises awareness about these conditions. You can find information about RTS on their website by visiting this link:
https://rarediseases.info.nih.gov/diseases/7593/rubinstein-taybi-syndrome
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Schizophrenia
Schizophrenia is a complex, long-term mental health disorder that affects a person’s thoughts, feelings, and behaviors. It is characterized by symptoms such as delusions, hallucinations, disorganized speech and behavior, as well as negative symptoms like reduced emotional expression and diminished motivation. The exact causes of schizophrenia are not well understood, but it is believed to be a combination of genetic, environmental, and brain chemistry factors.
A reputable Australian website that provides authoritative information about schizophrenia is SANE Australia. SANE is a national mental health charity that aims to support people affected by complex mental health issues, including schizophrenia. They offer resources, support, and information to help people better understand and manage their condition.
Here is the link to their website: https://www.sane.org/information-and-resources/facts-and-guides/schizophrenia
On the SANE Australia website, you can find information about schizophrenia, its symptoms, diagnosis, treatment options, and support services available in Australia.
Spina bifida
Spina bifida is a neural tube defect that occurs during early fetal development, typically within the first month of pregnancy. It results from the incomplete closure of the embryonic neural tube, which leads to the improper formation of the spinal cord and/or its protective coverings. There are three main types of spina bifida: spina bifida occulta, meningocele, and myelomeningocele. The severity of the condition varies depending on the type, with symptoms ranging from mild to severe physical and neurological complications. These can include mobility issues, bladder and bowel dysfunction, and learning difficulties.
A reputable Australian website that provides authoritative information about spina bifida is the Sydney Children’s Hospital. This organization aims to support individuals with spina bifida and their families by providing information, resources, and services. You can visit their website at the following link:
https://www.schn.health.nsw.gov.au/fact-sheets/spina-bifida
Please note that while the information provided on this website is reliable, it is always recommended to consult a healthcare professional for specific medical advice and guidance.
Stargardt disease
Stargardt disease, also known as Stargardt macular dystrophy or juvenile macular degeneration, is a rare inherited eye disorder that causes progressive vision loss. It is caused by mutations in the ABCA4 gene, which affects the function of the retinal pigment epithelium and photoreceptor cells in the macula, the central part of the retina responsible for sharp, central vision. Stargardt disease typically begins during childhood or adolescence and progresses over time, leading to reduced visual acuity, central vision loss, and sometimes peripheral vision loss. The severity and progression of the disease can vary among individuals.
A reputable Australian website that provides authoritative information about Stargardt disease is the Macular Disease Foundation Australia (MDFA). MDFA is dedicated to providing education, support, and research for Australians affected by macular diseases, including Stargardt disease. Here is a link to their website:
https://www.mdfoundation.com.au
To find specific information about Stargardt disease on the MDFA website, you can visit their dedicated page on the topic:
https://www.mdfoundation.com.au/conditions/stargardts-disease/
Please note that these links were accurate as of September 2021, and there might have been updates or changes since then. Always consult with a healthcare professional for personalized advice regarding any medical condition.
Seizure disorder (epilepsy)
Seizure disorder, also known as epilepsy, is a neurological condition characterized by recurrent, unprovoked seizures. Seizures are episodes of abnormal electrical activity in the brain, which can cause a variety of symptoms, including sudden, involuntary movements, loss of consciousness, and altered sensory perception. Epilepsy can be caused by various factors, such as genetic predisposition, brain injury, infections, or developmental abnormalities.
A reputable Australian website that provides authoritative information about epilepsy is the Epilepsy Action Australia.
You can find more information about seizure disorders, including diagnosis, treatment, and support resources, at the following link: https://www.epilepsy.org.au/.
Epilepsy Action Australia is a leading provider of support services, research, and education in the field of epilepsy, working to improve the lives of those affected by the condition.
Spinal muscular atrophy
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder characterized by the progressive degeneration of motor neurons in the spinal cord. This degeneration leads to muscle weakness, atrophy, and in severe cases, difficulty in breathing, swallowing, and moving. SMA is caused by mutations in the SMN1 gene, which is responsible for producing the survival motor neuron (SMN) protein. The SMN protein is crucial for the proper functioning of motor neurons. There are several types of SMA, ranging from Type 1 (the most severe form) to Type 4 (a milder adult-onset form), depending on the age of onset and the severity of the symptoms.
A reputable Australian website that provides authoritative information about Spinal Muscular Atrophy is Spinal Muscular Atrophy Australia. They offer a wealth of information on SMA, including its causes, symptoms, diagnosis, and treatment options. Here’s the link to their SMA page:
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Tourette’s syndrome
Tourette’s syndrome, also known as Tourette’s disorder, is a neurological condition characterized by involuntary tics, which are repetitive, rapid, and sudden movements or vocalizations. These tics can be classified as simple or complex. Simple tics involve a limited number of muscle groups, while complex tics involve multiple muscle groups and coordinated movements or vocalizations. The cause of Tourette’s syndrome is not completely understood, but it is believed to involve a combination of genetic and environmental factors.
Tourette’s syndrome usually begins in childhood, with symptoms typically appearing between the ages of 5 and 10. The severity of symptoms may vary over time and often improve in late adolescence or adulthood. In some cases, individuals with Tourette’s may also experience other conditions such as attention deficit hyperactivity disorder (ADHD) or obsessive-compulsive disorder (OCD).
For authoritative information about Tourette’s syndrome in Australia, you can visit the Tourette Syndrome Association of Australia (TSAA) website. The TSAA is a reputable organization dedicated to providing support, information, and resources to individuals with Tourette’s, their families, and professionals.
Website: Tourette Syndrome Association of Australia (TSAA) Link: https://www.tourette.org.au/
Turner syndrome
Turner syndrome is a genetic disorder that affects females. It occurs when one of the two X chromosomes normally present in females is missing or incomplete. The condition is named after Dr. Henry Turner, who first described it in 1938. Turner syndrome can cause a variety of physical and developmental symptoms, including short stature, delayed puberty, heart defects, learning disabilities, and infertility.
A reputable Australian website with authoritative information about Turner syndrome is the Turner Syndrome Association of Australia (TSAA). The TSAA is a non-profit organization that provides support, information, and resources for individuals with Turner syndrome and their families. You can visit their website at the following link:
https://www.turnersyndrome.org.au/
Here, you can find detailed information about Turner syndrome, including its causes, symptoms, diagnosis, treatment options, and support resources for those affected by the condition.
Thalassemia
Thalassemia is a group of inherited blood disorders characterized by abnormal hemoglobin production, which is essential for carrying oxygen in the blood. The condition results in anemia, as the body is unable to produce a sufficient amount of healthy red blood cells. Thalassemia is broadly categorized into two types: Alpha Thalassemia and Beta Thalassemia, both of which have different subtypes based on the severity of the condition.
A reputable Australian website that provides authoritative information about Thalassemia is the Thalassaemia and Sickle Cell Society of Australia (TASCSA). The organization is dedicated to providing support, education, and information to individuals affected by Thalassemia and Sickle Cell Anemia.
Website: Thalassaemia and Sickle Cell Society of Australia (TASCSA) Link: https://www.tasca.org.au/
You can visit the website to find comprehensive information about Thalassemia, its types, symptoms, diagnosis, treatment, and management, as well as resources for patients and families affected by the condition.
Tuberous Sclerosis Complex
Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that causes non-cancerous (benign) tumors to develop in various organs of the body, such as the brain, skin, heart, lungs, and kidneys. It is caused by mutations in either the TSC1 or TSC2 gene, which control cell growth and proliferation. The severity of TSC varies widely among individuals, and symptoms can range from mild to severe. Common symptoms include seizures, developmental delays, intellectual disabilities, behavioral problems, and skin abnormalities.
A reputable Australian website that provides authoritative information on Tuberous Sclerosis Complex is the Tuberous Sclerosis Australia (TSA) website. TSA is a non-profit organization committed to providing support, education, and advocacy for individuals and families affected by TSC.
You can find more information about TSC on their website at: https://tsa.org.au
On this website, you can access resources, research updates, support services, and educational materials related to Tuberous Sclerosis Complex.
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Williams syndrome
Williams syndrome is a rare genetic disorder characterized by a range of medical and developmental issues. It is caused by the deletion of approximately 26 to 28 genes on chromosome 7. The syndrome affects around 1 in 7,500 to 1 in 20,000 people and can present with a variety of symptoms, including cardiovascular problems, intellectual disability, distinctive facial features, and a highly social personality.
Some common features of Williams syndrome include:
- Elfin-like facial features, including a broad forehead, wide mouth, small upturned nose, and full cheeks.
- Learning and cognitive challenges, with varying levels of intellectual disability.
- A highly sociable, friendly, and empathetic personality.
- Hypersensitivity to sounds and tactile stimuli.
- Dental abnormalities, such as widely spaced teeth and small, underdeveloped teeth.
- Heart and blood vessel problems, like supravalvular aortic stenosis, which is a narrowing of the aorta.
For authoritative information on Williams syndrome in Australia, you can visit the Williams Syndrome Association of Australia (WSAA) website:
https://www.williamssyndrome.org.au/
The WSAA is a reputable organization that provides information, resources, and support to individuals with Williams syndrome and their families in Australia. Their website contains information on the diagnosis, management, and treatment of Williams syndrome, as well as details about research, support networks, and events for the Williams syndrome community.
West Syndrome
West Syndrome, also known as infantile spasms, is a rare and severe form of epilepsy that typically begins in infancy. It is characterized by a specific type of seizure called spasms, which involve sudden, brief, and involuntary muscle contractions. These spasms often occur in clusters and may result in the infant’s body bending forward or extending outwards.
Infants with West Syndrome may also exhibit other symptoms such as developmental delays, cognitive impairment, and abnormalities in the electrical activity of the brain. The exact cause of West Syndrome is not fully understood, but it can be associated with various underlying conditions, including brain abnormalities, genetic disorders, or metabolic disorders.
Early recognition and diagnosis of West Syndrome are crucial for initiating prompt treatment, as early intervention may improve outcomes. Treatment options typically involve the use of antiepileptic medications, hormonal therapy (such as adrenocorticotropic hormone or oral corticosteroids), or other forms of seizure management.
For authoritative information about West Syndrome in Australia, you can visit the website of the Epilepsy Foundation. They have a comprehensive section on their website dedicated to pediatric health information, including West Syndrome. You can access the information about West Syndrome at the following link:
Wilson’s disease
Wilson’s disease, also known as hepatolenticular degeneration, is a rare genetic disorder characterized by the body’s inability to properly metabolize copper. This leads to an accumulation of copper in various organs, primarily the liver and brain. The condition is caused by mutations in the ATP7B gene, which is responsible for transporting copper out of the liver.
Excess copper buildup in Wilson’s disease can cause liver damage, leading to symptoms such as jaundice, fatigue, abdominal pain, and liver cirrhosis. Copper can also accumulate in the brain, resulting in neurological symptoms like tremors, difficulty speaking and swallowing, rigid muscles, and behavioral changes. If left untreated, Wilson’s disease can be life-threatening.
For authoritative information on Wilson’s disease in Australia, a reputable website to consult is:
Website: Live Foundation: https://liver.org.au/your-liver/liver-diseases/wilsons-disease/
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Younger-onset Alzheimer’s disease
Younger-onset Alzheimer’s disease, also known as early-onset Alzheimer’s disease, refers to the development of Alzheimer’s symptoms in individuals who are under the age of 65. While Alzheimer’s disease is commonly associated with older adults, affecting individuals over the age of 65, younger-onset Alzheimer’s occurs in a relatively small percentage of cases.
The symptoms and progression of younger-onset Alzheimer’s are similar to those seen in late-onset Alzheimer’s disease. These include memory loss, difficulty with problem-solving and planning, confusion, changes in behavior and personality, language problems, and challenges with daily tasks. However, the impact of the disease on younger individuals can be particularly devastating, as it may disrupt their careers, relationships, and financial stability at a relatively early stage of life.
The causes of younger-onset Alzheimer’s are not yet fully understood, but they may involve a combination of genetic, environmental, and lifestyle factors. Some cases may be linked to specific gene mutations inherited from parents, while others may have no known genetic cause.
As for a reputable Australian website with authoritative information on younger-onset Alzheimer’s disease, I recommend visiting the Alzheimer’s Australia website. However, it’s important to note that as of my knowledge cutoff in September 2021, Alzheimer’s Australia merged with Dementia Australia in 2017. Therefore, the current official website for authoritative information on Alzheimer’s and related dementias in Australia is Dementia Australia (https://www.dementia.org.au/). This website provides comprehensive information about the different types of dementia, including younger-onset Alzheimer’s, its symptoms, diagnosis, treatment options, and support services available in Australia.