Ataxia-telangiectasia
- Article
- 2021-03-02
Ataxia telangiectasia is a rare neurological disease in children that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are shaky walking and slurred speech, usually during the first five years of life. Telangiectasia (small, red "varicose veins"), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease but are not always present and generally do not appear in the early years of life. About 35 percent of those with AT develop cancer, usually acute lymphocytic leukemia or lymphoma. The most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma rays. Many people with AT have weakened immune systems, making them prone to recurring respiratory infections. Other features of the disease include mild diabetes mellitus, premature hair graying, difficulty swallowing and delayed physical and sexual development. Children with AT usually have normal or above normal intelligence.
Therapy
There is no cure for AT and currently there is no way to slow the progression of the disease. Treatment is symptomatic and supportive. Physical therapy and occupational therapy help to maintain flexibility. Speech therapy is important in teaching children to control airflow to the vocal cords. Gamma globulin injections may be useful if immunoglobulin levels are reduced enough to weaken the immune system. High dose vitamin regimens and antioxidants such as alpha lipoic acid can also be used.
Prognosis
The average lifespan has been improving for years for unknown reasons and varies with the severity of the underlying mutations, ATM (ataxia-telangiectasia mutated) protein levels, and residual ATM kinase activity. Some people with later disease onset and slower progression survive into their 50s.
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