Ataxia Telangiectasia
| Definition: |
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive cerebellar ataxia, telangiectasis of conjunctiva and skin, dysarthria, B- and T-cell immunodeficiency, and sensitivity to ionizing radiation. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder has been mapped to the long arm of chromosome 11 (11q22.3). |
| Previously Indexed: |
Ataxia (1966-1967) |
Ataxia Telangiectasia Definitions and Terms
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