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Ataxia - telangiectasia

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Contents of this page:

Illustrations

Antibodies
Antibodies

Alternative Names    Return to top

Louis-Bar syndrome

Definition    Return to top

Ataxia-telangiectasia is rare childhood disease that affects the brain and other parts of the body.

Ataxia refers to uncoordinated movements, such as walking. Telangiectasis is the enlargement of blood vessels (capillaries) just below the surface of the skin. Telangiectasis appear as tiny, red, spider-like veins.

Causes    Return to top

Ataxia-telangiectasia is inherited, which means it is passed down through families. It is an autosomal recessive trait.

The disease results from defects in the ataxia telangiectasia mutated (ATM) gene. Defects in this gene can lead to abnormal cell death in various places of the body, including the part of the brain that helps coordinate movement.

Males and females are equally affected. Ataxia-telangiectasia affects approximately 1 in 40,000 to 100,000 people worldwide.

Symptoms    Return to top

Exams and Tests    Return to top

The doctor will perform a physical exam. Examination may show signs of the following:

Possible tests include:

Treatment    Return to top

There is no specific treatment for ataxia-telangiectasia. Treatment is directed at specific symptoms.

Support Groups    Return to top

Ataxia Telangiectasia Children's Project - www.atcp.org

National Ataxia Foundation (NAF) - www.ataxia.org

Outlook (Prognosis)    Return to top

Early death is common, but life expectancy varies.

Because persons with this condition are very sensitive to radiation, they should never be given radiation therapy, and no unnecessary x-rays should be done.

Possible Complications    Return to top

When to Contact a Medical Professional    Return to top

Call your health care provider if signs or symptoms of the disease are present.

Prevention    Return to top

Couples with a family history of this condition who are considering pregnancy may consider genetic counseling.

Parents of a child with this disorder may have a slight increased risk of cancer. They should have genetic counseling and more intensive cancer screenings.

Update Date: 7/1/2007

Updated by: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.

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