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Alternative Names Return to topLouis-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.