Friedreich's ataxia

Friedreich's ataxia, a slowly progressive disorder is characterized by inability to coordinate voluntary muscle movements (ataxia). The ataxia may affect upper and lower limbs and the head and neck. The ataxia is due to both sensory and cerebellar impairment. Pes cavus occurs in 50% of cases and cardiac abnormalities are relatively common. Genetic testing is resorted to for prenatal diagnosis and counselling for families with an affected child as recurrence risk is 25%. Treatment is largely symptomatic and supportive.

 

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