| Definition: |
An inherited disorders that affect many tissues and systems in the body, characterized by the presence of multiple symptoms such as telangiectases, ataxic gait, proneness to infection, and defective humoral/cellular immunity and increased risk of malignancies.
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| Alternative Names: |
Louis-Bar syndrome
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| Causes, incidence, and risk factors: |
| Ataxia-telangiectasia is transmitted as an autosomal recessive trait. The disease results from mutations in a gene called ATM. The most obvious symptoms of the disease are multiple telangiectases that are easily visible in the white of the eye and certain skin areas such as the ear and nose, graying of the hair, and irregular pigmentation of the skin in areas exposed to sunlight. In addition there is decreased coordination of movements, ataxia, in late childhood. |
| Symptoms: |
- delayed walking
- unsteady, jerky gait, ataxic gait (cerebellar ataxia)
- dilated blood vessels in the whites of the eyes
- dilated blood vessels in skin of nose, ears, and flexion side of the elbow and knee)
- severe recurrent respiratory infections
- decreasing mental development which slows or stops after age 10-12
- movement disorder (late)
- repetitive abnormal or jerky eye movements (nystagmus) (late)
- coffee-with-milk colored spots of the skin
- seizures
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| Signs and tests: |
- mask-like face
- decreased to absent deep tendon reflexes
- multiple skin changes including pigmentary, eczematoid and atrophic
- growth failure
- absence of pubertal development
- hypoplastic tonsils, lymph nodes, and spleen
Tests:
- serum immunoglobulin levels (IgE, IgA) - especially decreased IgA and IgE levels
- decreased B and T cell screen
- elevated alpha fetoprotein (AFP)
- carcinoembryonic antigen (CEA)
- increased tendency of chromosomes to break on exposure to radiation
- genetic testing may be available for mutations in the ATM gene.
- X-rays may show underdeveloped, small thymus in childhood
- abnormal glucose tolerance test
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| Treatment: |
| There is no specific treatment for ataxia-telangiectasia. Treatment is directed at specific associated problems. |
| Support Groups: |
| Ataxia Telangiectasia Children's Project; 800-543-5728 |
| Expectations (prognosis): |
| An early death is expected, commonly in early adolescence. |
| Calling your health care provider: |
Call your health care provider if signs or symptoms of the disease are present.
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| Prevention: |
| Because these patients are very sensitive to radiation they should never be exposed to radiation therapy and no unnecessary X-rays should be done. Genetic counseling is of benefit to prospective parents with a family history of ataxia-telangiectasia. Even parents of a child with this disorder may have a slight increased risk of cancer. They should have genetic counseling and more intensive screening for cancer. |
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Review Date: 10/30/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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