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 RADIOSENSITIVITY 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 (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
Other names Louis-Bar Syndrome; Syndrome, Louis-Bar; Syndrome, Ataxia Telangiectasia; Louis Bar Syndrome; Ataxia-Telangiectasia; Ataxia Telangiectasia Syndrome
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Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
