1. What is the inheritance of Friedreich's ataxia?
2. What is the onset time?
3. What are the characteristics of Friedreich's ataxia?
4. What does nerve biopsy show? What does EMG show?
5. What is the prognosis?
Answers:
1. Autosomal recessive
2. 2-16 years.
3. Abnormal sensation and weakness, abnormal MSR, ataxia, optic atrophy, kyphoscoliosis, dysarthria, pes cavus, cardiomyopathy.
4. Nerve bx shows abnormal large axons. SNAP is abnormal, CMAP is normal, with EMG showing abnormal acitivity.
5. WC use by age 16.
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