Medical Dictionary



Medical Definition of ataxia–telangiectasia

  1. :  an inherited, systemic disorder that is marked especially by progressive pathological changes in the nervous system resulting in loss of motor coordination, telangiectasias especially on the eyes, ears, and cheeks, and immunodeficiency leading to increased susceptibility to cancer especially of lymphoid tissue Many children with ataxia-telangiectasia die from respiratory failure or cancer by their teens or early 20s.—Bill Minutaglio, The Dallas Morning News, 22 Dec. 1994 Defects in such a multifunctional protein might explain many of the clinical manifestations seen in patients with ataxia–telangiectasia.—Michael Kastan, The New England Journal of Medicine, 7 Sept. 1995 Ataxia-telangiectasia is inherited as a recessive autosomal trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.

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a rounded knoll or a ridge of ice

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