The long arm of chromosome 14 is abnormal in some patients. The most obvious symptoms of the disease are multiple telangiectasia that are easily visible in the white of the eye and certain skin areas such as the ear and nose, graying of the hair, and irregular pigmentation of the skin in areas exposed to sunlight. Genetic counseling may be of benefit to prospective parents with a family history of ataxia-telangiectasia. Prenatal diagnosis is not available. There is no specific treatment for ataxia-telangiectasia.
Treatment is directed at specific associated problems.
An early death is expected, commonly in early adolescence. The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Inc. Any duplication or distribution of the information contained herein is strictly prohibited.