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Friedreich's Ataxia Signs

  • Cerebellar: Nystagmus, fast saccadic eye movements, truncal titubation, 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, 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.

20% of cases are found in association with diabetes mellitus type 1 or 2 or pancreatic β cell dysfunction.

Further Reading

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