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Ataxia Telangiectasia - Medical Condition Information

Ataxia Telangiectasia

Louis-Bar Syndrome
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📋Overview

Ataxia Telangiectasia (A-T) is a rare, inherited neurodegenerative disorder characterized by progressive cerebellar ataxia, immunodeficiency, and telangiectasias (small dilated blood vessels). It is caused by mutations in the ATM gene, which plays a role in DNA repair and cell cycle control. A-T is the preferred modern term, replacing older synonyms such as Louis-Bar syndrome.

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