Video - Ataxia-telangiectasia
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Video Summary
Ataxia-telangiectasia (A-T) also called Louis-Bar Syndrome, is an autosomal recessive condition characterized by progressive cerebellar atrophy and oculocutaneous telangiectasia (small dilated vessels under the skin). People with A-T often have high rates of cancer and immunodeficiency disorders. It is caused by a mutation of the ataxia telangiectasia mutated (ATM) gene, and it is characterized by poor muscle coordination or ataxia (often needing a wheelchair by the age of 10), dysarthria, and telangiectasia on the skin and eyes.