Ataxia Telangiectasia

Overview

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Is a:

Disease or Syndrome

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).

Synonyms:

Ataxia Telangiectasia Syndrome
Ataxia-Telangiectasia
Louis Bar Syndrome
Louis-Bar Syndrome
Syndrome, Ataxia Telangiectasia
Syndrome, Louis-Bar

Broader Topics:

Narrower Topics:

None

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