Fact-sheet: Ataxia-telangiectasia
Updated on 09/17/2021 at 12:16 PM
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Definition
Autosomal recessive disease belonging to the group of phakomatoses.
Clinical features
- progressive cerebellar ataxia occurring between one and four years of age
- oculomotor apraxia
- frequent infections secondary to an immune deficiency, mainly humoral
- choreoathetosis
- telangiectasias appearing late but most evident on the conjunctiva
- increased risk of cancer, especially leukemia and lymphoma.
Laboratory findings
Increased alpha-fetoprotein.
Confirmation by cytogenetics.
MRI
Cerebellar atrophy