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WHAT IS A-T?
Ataxia Telangiectasia (A-T) is a neurodegenerative, autosomal recessive disease that causes severe disability. Ataxia refers to lack of voluntary coordination of muscle movements that can include abnormalities with gait, speech, and eye movement. Children with A-T often lose their ability to write, their speech becomes slow and slurred, and eventually reading becomes impossible as eye movement becomes difficult to control. By adolescence, most people with A-T will require a wheelchair. Telangiectasia refers to small dilated blood vessels near the surface of the skin.
A-T is caused by a mutation in the ATM gene, which is responsible for recognition and repair of damaged DNA. A-T affects muscle control, weakens the immune system and prevents repair of broken DNA, causing a high risk of cancer. The life expectancy of people with A-T varies greatly, but the average is approximately 25 years. A-T is a rare disease, affecting between 1 in 40,000 to 1 in 100,000 births.
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