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Ataxia - telangiectasia

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Definition:

Ataxia-telangiectasia is rare childhood disease that affects the brain and other parts of the body.

Ataxia refers to uncoordinated movements, such as walking. Telangiectasis is the enlargement of blood vessels (capillaries) just below the surface of the skin. Telangiectasis appear as tiny, red, spider-like veins.

Alternative Names:

Louis-Bar syndrome

Causes, incidence, and risk factors:

Ataxia-telangiectasia is inherited, which means it is passed down through families. It is an autosomal recessive trait.

The disease results from defects in the ataxia telangiectasia mutated (ATM) gene. Defects in this gene can lead to abnormal cell death in various places of the body, including the part of the brain that helps coordinate movement.

Males and females are equally affected. Ataxia-telangiectasia affects approximately 1 in 40,000 to 100,000 people worldwide.

• Review Date: 7/1/2007
• Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.

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