Other Names for this Disease
- Louis-Bar syndrome
- Cerebello-oculocutaneous telangiectasia
- Immunodeficiency with ataxia telangiectasia
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oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. A-T is caused by changes (mutations) in the ATM gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements),
Last updated: 4/5/2016
- NINDS Ataxia Telangiectasia Information Page. National Institute of Neurological Disorders and Stroke (NINDS). July, 2015; http://www.ninds.nih.gov/disorders/a_t/a-t.htm.
- Richard Gatti, MD. Ataxia-Telangiectasia. GeneReviews. March 2010; http://www.ncbi.nlm.nih.gov/books/NBK26468.
- Ataxia-telangiectasia. Genetics Home Reference (GHR). 2013; http://ghr.nlm.nih.gov/condition/ataxia-telangiectasia.
- Genetics Home Reference (GHR) contains information on Ataxia telangiectasia. This website is maintained by the National Library of Medicine.
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