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Ataxia - telangiectasia Causes and Risks:
Ataxia-telangiectasia is thought to be transmitted as an autosomal recessive trait. The long arm of chromosome 14 is abnormal in some patients. The most obvious symptoms of the disease are multiple telangiectasia 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.
Prevention:
Genetic counseling may be of benefit to prospective parents with a family history of ataxia-telangiectasia. Prenatal diagnosis is not available.
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 jerky eye movements ( nystagmus ) (late)
Signs and Tests:
- mask-like face
- decreased deep tendon reflexes
- multiple skin changes including pigmentary, eczematoid and atrophic
- growth failure
- absence of pubertal development
- hypoplastic tonsils, lymph nodes, and spleen
Tests:
Treatment:
There is no specific treatment for ataxia-telangiectasia. Treatment is directed at specific associated problems.
Prognosis:
An early death is expected, commonly in early adolescence.
Complications:
Call Your Healthcare Provider:
Call your health care provider if signs or symptoms of the disease are present.
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