Ataxia (including Friedreich's ataxia)
Ataxia can affect balance, limb or eye movements and speech. Ataxia is the loss of coordinated bodily movements. Early problems include unsteadiness and clumsiness, but vision, hearing and speech can be affected too. Ataxia can be caused by many ... [... more]
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Acne
Acne is a common skin condition in which inflamed spots develop. They appear mostly on the face and neck, but also on the shoulders, back and elsewhere on the body. The skin has thousands of tiny hair follicles. Each has a sebaceous gland that ... [... more]
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Nevoid basal cell carcinoma
A guide to nevoid basal cell carcinoma, facts about the condition and where to go for support Gorlin syndrome is an inherited condition that affects one in 55,600 of the UK population. We look at causes, treatments, and where to go for ... [... more]
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Reye's syndrome
First described in 1963 by Australian pathologist R Douglas Reye, Reye's syndrome is a rare but potentially fatal illness that affects the brain and liver. The cause of Reye's syndrome isn't fully understood. It affects children when they appear ... [... more]
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Jennifer Trust for Spinal Muscular Atrophy
We look at the causes and symptoms of the genetic disorder spinal muscular atrophy, as well as the forms of care patients receive. Spinal muscular atrophy (SMA) is a condition that affects the nerves in an area of the spinal cord called the ... [... more]
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Itchiness
When our skin itches, we tend to scratch it. However, because scratching usually provides only short-lived relief, and the itchiness often returns more intensely than before, we can get into a cycle of itching and scratching that becomes hard to ... [... more]
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Leigh's disease
Leigh's disease, also known as Leigh's syndrome, is a rare inherited neurometabolic disorder, which means it affects the metabolism or internal workings of nerve cells. Leigh's disease is caused by problems in the mitochondria - the tiny ... [... more]
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Haemophilia
A guide to the inherited disorder haemophilia, plus where to go for support Haemophilia is known to run in European royal families and, notably, the son of the last Russian tsar was badly affected. But how's it passed on and what are the possible ... [... more]
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Burns
Burns and scalds are the damage caused predominantly to the skin and superficial tissues (or exposed mucosal surfaces such as the gullet or airways) by intense heat, boiling water or strong chemicals. Chemical - strong acids or alkalis, cleaning ... [... more]
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Shigella sonnei
Dysentery is a highly contagious bacterial infection, which is spread by poor hygiene. Dysentery is an infection of the gut caused by a bacterium called shigella. Dysentery is usually spread by hand-to-mouth transfer from person-to-person or from ... [... more]
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Wilson's disease
This genetic disease, which affects about one in 30,000 people worldwide, causes copper to accumulate in the body and can be fatal if untreated. In Wilson's disease, a genetic abnormality means the protein which usually transfers copper from ... [... more]
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Squints
When a child's eyes don't both look in exactly the same direction they are said to have a squint (also known as strabismus). It can have important implications for sight, but can be treated successfully. Squints are caused by difficulty in ... [... more]
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