Ataxia - Telangiectasia
Alternate Names : Louis-Bar Syndrome
Definition Ataxia-telangiectasia is an inherited disorder that affects many tissues and systems in the body. Multiple symptoms may include telangiectasis (dilation of capillaries), ataxic (uncoordinated) gait, proneness to infection, defective humoral and cellular immunity and increased risk of malignancies.
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Overview, Causes, & Risk Factors
Ataxia-telangiectasia is transmitted as an autosomal recessive trait. The disease results from mutations in a gene called ATM. The most obvious symptoms of the disease are multiple telangiectases that are easily visible in the white of the eye and skin areas such as the ear and nose, graying of the hair, and irregular pigmentation of the skin in areas exposed to sunlight. In addition, there is decreased coordination of movements (ataxia) in late childhood.
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