ataxia telangiectasia

(redirected from ataxia telangiectasia syndrome)
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a·tax·i·a tel·an·gi·ec·ta·si·a

, ataxia-telangiectasia [MIM*208900]
an autosomal recessive multisystem disorder consisting of ataxia, ocular apraxia, hypotonia, proprioceptive sensory loss, areflexia, and choreoathetosis; onset typically in early childhood; systemic features include increased susceptibility to malignancies, conjunctival and cutaneous telangiectasia, and recurrent pulmonary infections due to immunodeficiencies. Caused by breaks on chromosome 11q at q22-q23, producing failure of DNA repair.

a·tax·ia tel·an·gi·ec·ta·si·a

(ă-tak'sē-ă tel-an'jē-ek-tā'zē-ă)
A slowly progressive multisystem disorder with ataxia appearing with the onset of walking; telangiectases of the conjunctiva and skin; athetosis and nystagmus; and recurrent infections of the respiratory system caused by immunoglobulin deficiencies. Approximately 70% of affected patients have an IgA deficiency concomitant with decreased T-helper cell function.


Denise, mid-20th century Belgian neuropathologist.
Louis-Bar syndrome - an autosomal recessive disorder characterized by cerebellar ataxia and telangiectasia. Synonym(s): ataxia telangiectasia
References in periodicals archive ?
nicotinic acid), pituitary tumors, thyroid disorders, and ataxia telangiectasia syndrome (1).

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