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Alternative names Return to top
Louis-Bar syndromeDefinition Return to top
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.Causes, incidence, and risk factors Return to top
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.Symptoms Return to top
Signs and tests Return to top
Treatment Return to top
There is no specific treatment for ataxia-telangiectasia. Treatment is directed at specific associated problems.Support Groups Return to top
Ataxia Telangiectasia Children's ProjectExpectations (prognosis) Return to top
An early death is expected, commonly in early adolescence.Complications Return to top
Calling your health care provider Return to top
Call your health care provider if signs or symptoms of the disease are present.Prevention Return to top
Because these patients are very sensitive to radiation, they should never be exposed to radiation therapy and no unnecessary x-rays should be done. Genetic counseling is of benefit to prospective parents with a family history of ataxia-telangiectasia. Even parents of a child with this disorder may have a slight increased risk of cancer. They should have genetic counseling and more intensive screening for cancer. Update Date: 8/19/2003 Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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Page last updated: 28 September 2004 |