ataxia telangiectasia(redirected from ataxia telangiectasia syndrome)
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.
Louis-Bar,Denise, mid-20th century Belgian neuropathologist.
Louis-Bar syndrome - an autosomal recessive disorder characterized by cerebellar ataxia and telangiectasia. Synonym(s): ataxia telangiectasia