Immunologic deficiencies also include an increased incidence of malignancies. Ataxia-telangiectasia is thought to be transmitted as an autosomal recessive trait. 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. There is no specific treatment for ataxia-telangiectasia.
Treatment is directed at specific associated problems.
An early death is expected, commonly in early adolescence. Call your health care provider if signs or symptoms of the disease are present. Prevention Genetic counseling may be of benefit to prospective parents with a family history of ataxia-telangiectasia. Prenatal diagnosis is not available. The information provided herein should not be used for diagnosis or treatment of any medical condition.