Disease

Ataxia - telangiectasia

Definition

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.

Alternative Names

Louis-Bar syndrome

Causes, incidence, and risk factors

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.

Symptoms

Decreased coordination of movements (ataxia) in late childhood Ataxic gait (cerebellar ataxia)Jerky gaitUnsteady Decreasing mental development, slows or stops after age 10 - 12Delayed walkingDiscoloration of skin areas exposed to sunlightDiscoloration of skin (coffee-with-milk-colored spots)Enlarged blood vessels in skin of nose, ears, and inside of the elbow and kneeEnlarged blood vessels in the whites of the eyesJerky or abnormal eye movements (nystagmus) late in the diseasePremature graying of the hairSeizuresSensitivity to radiation, including medical x-raysSevere respiratory infections that keep coming back (recurring)

Signs and tests

The doctor will perform a physical exam. Examination may show signs of the following:Below normal sized tonsils, lymph nodes, and spleenDecreased to absent deep tendon reflexesDelayed or absent physical and sexual developmentGrowth failureMask-like faceMultiple skin coloring and texture changes Possible tests include:Alpha fetoproteinB and T cell screenCarcinoembryonic antigenGenetic testing to look for mutations in the ATM geneGlucose tolerance testSerum immunoglobulin levels (IgE, IgA)X-rays to look at the size of the thymus gland

Treatment

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

Support Groups

Ataxia Telangiectasia Children's Project - www.atcp.orgNational Ataxia Foundation (NAF) - www.ataxia.org

Expectations (prognosis)

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.

Complications

Cancer such as lymphomaDiabetesKyphosisProgressive movement disorder that leads to wheelchair useScoliosisSevere, recurrent lung infections

Calling your health care provider

Call your health care 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 of cancer. They should have genetic counseling and more intensive cancer screenings.

Review Date: 8/4/2011
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University 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, Medical Director, A.D.A.M., Inc.
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- 2011 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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