Ataxia-telangiectasia is a rare childhood disease. It 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 blood vessels.
Ataxia-telangiectasia is inherited. This means it is passed down through families. It is an autosomal recessive trait. Both parents must provide a copy of a nonworking gene for the child to have symptoms of the disorder.
The disease results from a mutation in the ATM gene. This gene provides instructions for making a protein that helps control the rate at which cells grow and divide. Defects in this gene can lead to abnormal cell death around the body, including the part of the brain that helps coordinate movement.
Boys and girls are equally affected.
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 people with this condition are very sensitive to radiation, they should never be given radiation therapy, and no unnecessary x-rays should be done.
Complications may include:
Contact your 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 for cancer. They should have genetic counseling and increased cancer screenings.
Published Date: July 30, 2021
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Gatti R, Perlman S. Ataxia-telangiectasia. GeneReviews [Internet]. 2016. PMID: 20301790 pubmed.ncbi.nlm.nih.gov/20301790/. Updated October 27, 2016. Accessed October 29, 2021.
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