Genetic disorders
Albinism
Albinism is a group of genetic conditions. People with albinism have no or very little colour in their hair, skin and eyes so sun protection is vital.
Angelman syndrome
A rare syndrome causing physical and intellectual disability. It can’t be cured, but some therapies can improve the quality of life of those affected....
Ankylosing spondylitis
This rare form of arthritis affects the spine’s joints and ligaments and sometimes other joints. There’s no cure, but treatment can ease the symptoms.
Charcot-Marie-Tooth disease
This group of genetic conditions affects the nervous system, usually the hand and foot muscles first. It worsens, but some therapies are effective.
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia affects the hormones. People with the condition will have health problems, but might still enjoy a normal lifestyle.
Cystic fibrosis
Cystic fibrosis is a usually life-shortening disability that affects the lungs and digestive system. Quality of life can be improved with treatment.
Down syndrome
This syndrome causes learning difficulties, with a greater chance of health problems. Everyone is affected differently.
Duchenne muscular dystrophy
DMD, the commonest muscular dystrophy in kids, causes gradual loss of muscle function, affecting everyday activity. Treatment may help daily life.
Ehlers-Danlos syndrome
People with Ehlers-Danlos have very loose joints and easily bruised or stretchy skin. Symptoms can be managed, but the risk of injury is increased.
Fragile X syndrome
Fragile X causes intellectual disability, behavioural and learning difficulties, and physical problems. It’s the commonest genetic cause of autism.
Haemochromatosis
Haemochromatosis causes the body to absorb too much iron, leading to organ damage. Blood tests will diagnose it, and treatments are available.
Haemophilia
Haemophilia stops blood from clotting properly, causing abnormal bleeding. It’s best managed by a multidisciplinary team of health professionals.
Huntington’s disease
Huntington's affects the nervous system and worsens over time. Symptoms include difficulty controlling limbs, and cognitive and emotional changes.
Klinefelter syndrome
Affecting males, symptoms can include small genitals and infertility. It's estimated 1 in 500 men have Klinefelter syndrome, but most are unaware.
Marfan syndrome
This condition affects tissue that strengthens and stabilises joints and muscles. People with Marfan syndrome are often tall and long-limbed.
Neurofibromatosis
Tumours - usually benign - form with this quite common, manageable condition. Know more about living with neurofibromatosis and where to get support.
Noonan syndrome
Children with Noonan syndrome may have odd facial features, restricted growth and heart defects, but most, with therapy, go on to lead normal lives.
Prader-Willi syndrome
Adults with Prader-Willi may experience sleeping and breathing problems, and have an insatiable appetite, which can lead to life-threatening obesity.
Rett syndrome
Rett syndrome causes intellectual and physical disability. It’s been described relatively recently, so it’s not known how it progresses to middle age.
Tay-Sachs disease
Babies/children with Tay-Sachs develop slowly, lose vision and speech, and typically don’t reach school age. It’s commoner in certain genetic groups.
Thalassaemia
This inherited blood disorder prevents someone from making enough healthy haemoglobin to carry oxygen around the body, but it may not need treatment.
Tourette syndrome
People with this syndrome make involuntary repetitive sounds and movements. Most don't need treatment, and relaxation exercises may reduce symptoms.
Turner syndrome
Turner syndrome affects females. It includes sensory, developmental, and hormonal symptoms, but most females have normal intelligence and lifespan.
Von Willebrand disease
People with von Willebrand disease have trouble controlling their bleeding because a blood clotting factor is either absent, low or defective.
Williams syndrome
Williams syndrome can cause development, learning and medical problems, although children with it often have well-developed language and music skills.
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Brain Foundation | Tuberous Sclerosis
Tuberous Sclerosis Description Tuberous Sclerosis is an uncommon andcomplex genetic disorder
Read more on Brain Foundation website
Tuberous sclerosis - Better Health Channel
Tuberous sclerosis is a genetic disorder that affects various parts of the body to varying degrees of severity.
Read more on Better Health Channel website
Tuberous Sclerosis Complex - ACD
Tuberous sclerosis complex is a genetic disorder that can affect multiple organs including the skin, brain, kidneys, heart and lungs.
Read more on Australasian College of Dermatologists website
Williams Syndrome
Williams syndrome is a rare genetic disorder. Williams syndrome is characterised by distinctive physical features and behaviours, including a distinctive facial appearance, mild intellectual disability and an overly sociable personality.
Read more on Better Health Channel website
Brain Foundation | Dysautonomia
Dysautonomia Dysautonomia (Familial Dysautonomia, Riley-Day Syndrome) Description Familial Dysautonomia (also known as Riley-Day Syndrome) is a rare genetic disorder that affects the sensory and autonomic nerve system
Read more on Brain Foundation website
Charcot-Marie-Tooth disease (CMT)
Charcot-Marie-Tooth disease (CMT) is an umbrella term for a range of certain inherited genetic disorders that affect the peripheral nervous system. The peripheral nervous system controls our ability to move and feel parts of our body, such as hands and feet. Disorders of the peripheral nerves – the nerves stretching from the spinal cord to the muscles – are known as ‘neuropathies’.
Read more on Better Health Channel website
Genetic testing for hereditary diseases information | myVMC
Genetic testing involves analysing a person's DNA. It can be used to assess their risk of hereditary (genetic) conditions such as cystic fibrosis.
Read more on myVMC – Virtual Medical Centre website
Angelman syndrome
Angelman syndrome is a genetic condition that is present at birth (congenital). It causes intellectual disability and other features. Other characteristics of Angelman syndrome include distinctive facial features, mental retardation, speech problems and hyperactive behaviour. In most cases, the cause is a missing section (deletion) on the mother’s copy of chromosome 15.
Read more on Better Health Channel website
Trisomy disorders
Genes are the blueprint for our bodies. Almost every cell in the body has a copy of the blueprint, stored inside a sac called the nucleus. Genes are beaded along chromosomes, which are tightly bundled strands of the chemical substance deoxyribonucleic acid (DNA). Humans usually have 23 pairs of chromosomes, with two sex chromosomes that decide gender and 44 chromosomes that dictate other factors, such as growth and function.
Read more on Better Health Channel website
Huntington's disease - Lab Tests Online AU
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Top results
Carnitine supplements for treating people with inborn errors of metabolism | Cochrane
Inborn errors of metabolism are genetic disorders which have a wide range of symptoms. These often start at or soon after birth but may appear first at any time during adulthood. Affected individuals may need to deal with symptoms of the disease throughout their lifetime. Symptoms are often non-specific and may affect any organ. It can be difficult to diagnose an inborn error of metabolism. However, early detection is important and screening of infants for some disorders, such as phenylketonuria, is routine in several countries. It is recommended that carnitine supplements are prescribed in the diet of individuals with certain inborn errors of metabolism, along with other standard treatments. Carnitine supplements take the form of tablet, oral liquid, paediatric liquid and injection and might be taken with food for ease of administration. Unfortunately, we did not find any good quality trials to include in the review. This does not mean that carnitine is ineffective or should not be used in treating inborn errors of metabolism; however, individuals receiving carnitine should be carefully observed and monitored. Therefore, we recommend that clinicians base their decision to prescribe carnitine on clinical experience together with individual preferences. Future trials should include patient-reported outcomes using validated and internationally recognised scales. Any adverse events associated with the treatment should be reported. It should be carefully considered whether placebo-controlled trials in potentially lethal diseases, e.g. carnitine transporter disorder or glutaric aciduria type I, are ethical.
Read more on Cochrane (Australasian Centre) website
Interventions for increasing ankle flexibility in people with neuromuscular disease | Cochrane
Loss of ankle flexibility is a common problem for people with neuromuscular disease. It can cause foot deformity, pain and problems walking. The purpose of this review was to assess the evidence regarding the effectiveness of interventions for improving ankle flexibility in people with neuromuscular disease. Four studies were included in the review involving a total of 149 participants. Two studies showed that wearing a night splint was no more effective than not wearing a night splint for increasing ankle flexibility in 26 people who had Charcot-Marie-Tooth disease type 1A. One study showed corticosteroids (prednisone) did not significantly improve ankle flexibility in 103 boys with Duchenne muscular dystrophy and the other study showed that while orthopaedic surgery initially increased ankle flexibility in 20 young boys with Duchenne muscular dystrophy this was not sustained in the long term. This review shows that, currently, there is limited evidence supporting any intervention for improving ankle flexibility in patients with Charcot-Marie-Tooth disease type 1A and Duchenne muscular dystrophy. More research is needed.
Read more on Cochrane (Australasian Centre) website
Treatment for Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy) | Cochrane
Charcot-Marie-Tooth disease is a broad spectrum of different types of inherited peripheral neuropathy. The most common types affect motor and sensory nerves and cause muscle wasting and sensory loss. There have been few trials of treatment for Charcot-Marie Tooth disease. One very small trial of the nerve growth promoting factor, neurotrophin-3, showed possible benefit but needs to be replicated. Trials of exercise, orthosis, creatine and ganglioside injections have been done but did not show significant benefit. These were all too small to identify moderate benefit or harm. Trials of vitamin C for the commonest type of Charcot-Marie Tooth disease are in progress.
Read more on Cochrane (Australasian Centre) website
Screening tests for Downs syndrome in first 24 weeks of pregnancy | Cochrane
Down's syndrome (also known as Down's or Trisomy 21) is an incurable genetic disorder that causes significant physical and mental health problems, and disabilities. However, there is wide variation in how Down's affects people. Some individuals are severely affected whilst others have mild problems and are able to lead relatively normal lives. There is no way of predicting how badly a baby might be affected.
Read more on Cochrane (Australasian Centre) website
Screening tests for Downs syndrome in first three months of pregnancy | Cochrane
Down's syndrome (also known as Down's or Trisomy 21) is an incurable genetic disorder that causes significant physical and mental health problems, and disabilities. However, there is wide variation in how Down's affects people. Some individuals are severely affected whilst others have mild problems and are able to lead relatively normal lives. There is no way of predicting how badly a baby might be affected.
Read more on Cochrane (Australasian Centre) website
Genetics and genomics
Applications of genetics and genomics are flooding into clinical medicine and personal genotyping will influence many medical and health decisions in the future. This is particularly important in peri-conception care where couples have the opportunity to evaluate, prevent or get early diagnoses of genetic diseases.
Read more on Your Fertility website
Elective (regular) versus symptomatic intravenous antibiotic therapy for cystic fibrosis | Cochrane
Chronic infection of the airways by Pseudomonas aeruginosa in people with cystic fibrosis is associated with deterioration in respiratory function. Intravenous antibiotics are the standard therapy for pulmonary exacerbations caused by this micro-organism. Many centres advocate the use of elective (regular) three-monthly antibiotics to reduce the frequency of exacerbations and therefore slow the deterioration of lung function. Alternatively, intravenous antibiotics are only prescribed when symptoms indicate. Elective therapy may encourage multi-resistance to antibiotics. This review aimed to identify randomised and quasi-randomised controlled trials that evaluated the results of the two different approaches. No clear conclusions were identified. This review will no longer be regularly updated. Searches will still be undertaken on a two-yearly basis by the Cochrane Cystic Fibrosis & Genetic Disorders Group. If, in future, relevant trials are identified, the review will be updated again.
Read more on Cochrane (Australasian Centre) website
Inhaling antibiotics to treat temporary worsening of lung infection in people with cystic fibrosis | Cochrane
Cystic fibrosis is a serious genetic disorder that results in abnormal mucus in several parts of the body. In the lungs the abnormal mucus is linked to the likelihood of repeated infection. A pulmonary exacerbation is when symptoms become more severe, mostly due to more worsening infection. Antibiotics are an essential part of treatment and may be given in different ways, one of these is by inhaling the drug. We wanted to learn if this type of treatment improved general health and which method of giving antibiotics was best. We found there have been only six trials with a total of 208 people which compared inhaled antibiotics to intravenous antibiotics for treating pulmonary exacerbations in cystic fibrosis. The results of these trials did not allow us to answer our question. We are not able to show from these trials if inhaled antibiotics are useful for treating pulmonary exacerbations.
Read more on Cochrane (Australasian Centre) website
Compounds which can break down the structure of mucus for lung disease in cystic fibrosis | Cochrane
Cystic fibrosis is a genetic disorder which mainly affects the lungs. Chest infections recur in people with cystic fibrosis due to a build up of thick sputum (phlegm) in the air passages. Several treatments, including thiol derivatives,aim to loosen this sputum and so improve lung function and reduce the frequency of chest infections. Thiol derivatives may be either nebulized (breathed in) or oral (by mouth). They have been shown to help in other lung conditions, such as chronic obstructive pulmonary disease. This review aims to find out if there is enough evidence to recommend the use of nebulized or oral thiol derivatives for people with cystic fibrosis. We included nine trials; three assessed the effect of nebulized thiol derivatives. Of the nebulized trials, one compared 20% N-acetylcysteine to 2% N-acetylcysteine; another compared sodium-2-mercaptoethane sulphonate to 7% hypertonic saline; and the other compared glutathione to 4% hypertonic saline. Nebulized thiol derivatives were generally well-tolerated with no major adverse effects. However they showed no significant improvements in any of our outcome measures.
Read more on Cochrane (Australasian Centre) website
Bisphosphonates for osteoporosis in people with cystic fibrosis | Cochrane
Cystic fibrosis is a serious genetic disorder that affects many organs (e.g. lung and pancreas). It commonly leads to reduced bone mineral density, known as osteoporosis, which increases the likelihood of fractures. The short-term and long-term effects of fractures (e.g. rib and vertebral) may make lung disease worse. Bisphosphonates are drugs that increase bone mineral density by slowing down bone resorption. They are used to treat osteoporosis caused by menopause or the use of corticosteroid drugs.
Read more on Cochrane (Australasian Centre) website
