Ataxia - telangiectasia
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:
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