Search results for 5. National Health Service (2017
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Turner syndrome
Turner syndrome is a genetic disorder that only affects females. It causes a wide range of symptoms and some distinctive characteristics.
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Thalassaemia
Read about thalassaemia, a group of blood disorders that affect a substance called haemoglobin. Find out about the symptoms, causes and treatments.
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Spinal muscular atrophy
Read about spinal muscular atrophy (SMA), a condition that makes the muscles weaker and causes problems with movement that get worse over time.
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Spina bifida
Read about spina bifida, which is a condition where an unborn baby's spine and spinal cord does not develop properly.
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Prader-Willi syndrome
Find out about Prader-Willi syndrome (PWS), which is a rare genetic condition that causes a wide range of physical symptoms, learning difficulties and behavioural challenges.
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Oesophageal atresia and tracheo-oesophageal fistula
Oesophageal atresia is a rare birth defect that affects a baby's oesophagus (the tube through which food passes from the mouth to the stomach).
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Neuromyelitis optica
Read about neuromyelitis optica, a rare condition that affects the spinal cord and the nerves of the eyes (optic nerves). Find out about the symptoms, causes and treatments.
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Nail patella syndrome
Nail patella syndrome is a rare genetic condition that can involve problems with the nails, bones, kidneys and eyes. It's thought to affect about 1 in 50,000 people.
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Myasthenia gravis
Read about myasthenia gravis, including the symptoms and when to see a GP. Also, find out what causes the condition, how it's treated and the outlook.
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Muscular dystrophy
The muscular dystrophies (MD) are a group of inherited genetic conditions that gradually cause the muscles to weaken, leading to an increasing level of disability.