Ataxia-telangiectasia is a rare childhood disease that affects the brain and other parts of the body.
Ataxia refers to uncoordinated movements, such as walking. Telangiectasias are enlarged blood vessels (capillaries) just below the surface of the skin. Telangiectasias appear as tiny, red, spider-like veins.
Ataxia-telangiectasia is inherited, which means it is passed down through families. It is an autosomal recessive trait. This means that both parents must provide a defective gene for the child to have symptoms of the disorder.
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.
Boys and girls are equally affected.
The doctor will perform a physical exam. Examination may show signs of the following:
Possible tests include:
There is no specific treatment for ataxia-telangiectasia. Treatment is directed at specific symptoms.
Ataxia Telangiectasia Children's Project - www.atcp.org
National Ataxia Foundation (NAF) - www.ataxia.org
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.
Call your health care provider if your child develops symptoms of this disorder.
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.
Gatti R. Ataxia-Telangiectasia. 1999 Mar 19 [Updated March 11, 2010]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews [serial online]. Seattle, Wash: University of Washington, Seattle; 1993-2013. Accessed September 8, 2013.
Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.
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