DefinitionAtaxia-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 NamesLouis-Bar syndrome
Causes, incidence, and risk factorsAtaxia-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.
SymptomsDecreased 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 testsThe 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
TreatmentThere is no specific treatment for ataxia-telangiectasia. Treatment is directed at specific symptoms.
Support GroupsAtaxia 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.
ComplicationsCancer such as lymphomaDiabetesKyphosisProgressive movement disorder that leads to wheelchair useScoliosisSevere, recurrent lung infections
Calling your health care providerCall your health care provider if your child develops symptoms of this disorder.
PreventionCouples 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.