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Ataxia - telangiectasia

Louis-Bar syndrome

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.

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Telangiectasia

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Causes

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.

Symptoms

Symptoms include:

Exams and Tests

The health care provider will perform a physical exam. The exam may show signs of the following:

Possible tests include:

Treatment

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

Support Groups

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

National Ataxia Foundation (NAF): ataxia.org

Outlook (Prognosis)

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.

Possible Complications

Complications may include:

When to Contact a Medical Professional

Call your provider if your child develops symptoms of this disorder.

Prevention

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.

Related Information

Pulmonary angiography
Hodgkin lymphoma
Diabetes
Scoliosis
Kyphosis

References

Gatti R, Perlman S. Ataxia-telangiectasia. GeneReviews. 2016. PMID: 20301790 www.ncbi.nlm.nih.gov/pubmed/20301790. Updated October 27, 2016. Accessed July 30, 2019.

Martin KL. Vascular disorders. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 669.

Varma R, Williams SD. Neurology. In: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Diagnosis. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 16.

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Review Date: 7/29/2019  

Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant 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.

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