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About: Ataxia–telangiectasia     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : dbo:Disease, within Data Space : dbpedia.org associated with source document(s)

Type: ThingDiseasedisease New Facet based on Instances of this Class

Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative, autosomal recessive disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A–T affects many parts of the body: A–T is caused by a defect in the ATM gene, which is involved in the recognition and repair of damaged DNA. The prevalence of A–T is estimated to be as high as 1 in 40,000 to as low as 1 in 300,000 people.