Ataxia - telangiectasia
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 veins.
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 defects in the ataxia telangiectasia mutated (ATM) gene. 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.
- Decreased coordination of movements (ataxia) in late childhood that can include ataxic gait (cerebellar ataxia), jerky gait, unsteadiness
- Decreasing mental development, slows or stops after age 10 to 12
- Delayed walking
- Discoloration of skin areas exposed to sunlight
- Discoloration of skin (coffee-with-milk-colored spots)
- Enlarged blood vessels in skin of nose, ears, and inside of the elbow and knee
- Enlarged blood vessels in the whites of the eyes
- Jerky or abnormal eye movements (nystagmus) late in the disease
- Premature graying of the hair
- Sensitivity to radiation, including x-rays
- Severe respiratory infections that keep coming back (recurring)
Exams and Tests
The health care provider will perform a physical exam. The exam may show signs of the following:
- Tonsils, lymph nodes, and spleen below normal size
- Decreased to absent deep tendon reflexes
- Delayed or absent physical and sexual development
- Growth failure
- Mask-like face
- Multiple skin coloring and texture changes
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 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:
When to Contact a Medical Professional
Call 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.
Gatti R. Ataxia-telangiectasia. GeneReviews. Seattle, WA: University of Washington; 2010:3. Accessed August 1, 2015. www.ncbi.nlm.nih.gov/pubmed/20301790.
Reviewed By:Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
The information provided herein should not be used during any medical emergency
or for the diagnosis or treatment of any medical condition. A licensed medical professional
should be consulted for diagnosis and treatment of any and all medical conditions. Call 911
for all medical emergencies. Links to other sites are provided for information only -- they
do not constitute endorsements of those other sites. © 1997-A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.
Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.