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Unformatted text preview: Epidemiology Friedreich's ataxia is the most prevalent inherited ataxia, affecting about 1 in 50,000 people in the United States. Males and females are affected equally. The estimated carrier prevalence is 1:110. Diagnosis The diagnosis is perform by the patients symptoms and signs that can be elicited such as: • Cerebellar: Nystagmus, fast saccadic eye movements, truncal ataxia, dysarthria, dysmetria. • Pyramidal: absent deep tendon reflexes, extensor plantar responses, and distal weakness are commonly found. • Dorsal column: Loss of vibratory and proprioceptive sensation occurs. • Cardiac involvement occurs in 91% of patients, including cardiomegaly (up to dilated cardiomyopathy), symmetrical hypertrophy, heart murmurs, and conduction defects. Median age of death is 35 years, while females have better prognosis with a 20-year survival of 100% as compared to 63% in men....
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- Fall '10
- Anthropology, Friedreich, cerebellar ataxia, prevalent inherited ataxia