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Ataxia-telangiectasia
Background
Ataxia-telangiectasia (A-T) is a very rare familial neurodegenerative disorder. Signs of the disorder usually become noticeable between one to four years of age, although occasionally not until the teenage years. Affected children have problems of balance control (ataxia) and so unsteady walking is observed, as well as prominent blood vessels most commonly seen on the conjunctiva of the eyes in early childhood (telangiectasia). Speech problems occur but, after a period of deterioration, a stable state is reached and speech is always understandable. There is often a gradual loss of power as well as other coordination problems over the decades. Intelligence is normal. There is a lot of variation in how severely individuals are affected, which can now be explained to some extent by recent developments in genetic understanding.
Other features of the disorder include: frequent infections due to a defect in the immune system; short stature and an increased risk of cancers.
