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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Ataxia telangiectasia


Other Names for this Disease
  • AT
  • Cerebello-oculocutaneous telangiectasia
  • Immunodeficiency with ataxia telangiectasia
  • Louis-Bar syndrome
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Your Question

How might ataxia telangiectasia affect a person's ability to move and speak?

Our Answer

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What is ataxia telangiectasia?

Ataxia telangiectasia (A-T) is an inherited childhood disorder that causes degeneration in the part of the brain that controls motor movements and speech.[1] The condition is characterized by neurological signs, telangiectasias, susceptibility to infections and an increased risk of cancer.[2] Mutations in the ATM gene cause ataxia-telangiectasia. The condition is inherited in an autosomal recessive pattern.[3] There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive.[1]
Last updated: 5/25/2011

What are the signs and symptoms of ataxia telangiectasia?

Ataxia-telangiectasia affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition.[3]

Affected individuals tend to have high amounts of a protein called alpha-fetoprotein (AFP) in their blood. The level of this protein is usually increased in the bloodstream of pregnant women. The effect of abnormally high levels of AFP in people with ataxia-telangiectasia is unknown.[3]

People with ataxia-telangiectasia often have a weakened immune system, and many develop chronic lung infections. They are also at an increased risk of developing cancer, particularly leukemia and lymphoma. Affected individuals are very sensitive to the effects of radiation exposure, including medical x-rays. Although people with ataxia-telangiectasia usually live into adulthood, their life expectancy is reduced.[3]

Last updated: 5/25/2011

References