Ataxia - Telangiectasia
Alternate Names : Louis-Bar Syndrome
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Symptoms & Signs
- 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 in the disease
- Repetitive abnormal or jerky eye movements (nystagmus) late in the disease
- Coffee-with-milk colored spots of the skin
- Seizures
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