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Ataxia-telangiectasia syndrome - External and Internal Eye
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Ataxia-telangiectasia syndrome - External and Internal Eye

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Contributors: Brandon D. Ayres MD, Christopher Rapuano MD, Harvey A. Brown MD, Sunir J. Garg MD, Lauren Patty Daskivich MD, MSHS
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Synopsis

Ataxia-telangiectasia (AT), also known as Louis-Bar syndrome, is an autosomal recessive, multisystem disorder characterized by progressive neurologic impairment, cerebellar ataxia, variable immunodeficiency with susceptibility to sinopulmonary infections, impaired organ maturation, X-ray hypersensitivity, ocular and cutaneous telangiectasia, and a predisposition to malignancy. The responsible gene (ATM gene) causes defective DNA repair due to exposure to UV, gamma, and X-radiation.

The disease is reported worldwide with an estimated frequency of 1 in 100,000 births. It occurs in all races and equally in both sexes.

Death typically occurs in early or middle adolescence, usually from bronchopulmonary infection, less frequently from malignancy, or from a combination of both.

Ataxia is usually a first diagnostic hallmark, having its onset in the first years of life. Oculocutaneous telangiectasia usually has a later onset than the ataxia, typically between ages 3-6.

For more information, see OMIM.

Codes

ICD10CM:
G11.3 – Cerebellar ataxia with defective DNA repair

SNOMEDCT:
68504005 – Ataxia-telangiectasia syndrome

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Last Updated: 03/29/2017
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Ataxia-telangiectasia syndrome - External and Internal Eye
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Ataxia-telangiectasia syndrome : Ataxia, Bilateral, Eye, Telangiectasia
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