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Friday, February 4, 2011

FRIEDREICH ATAXIA

Friedreich atxia, the commonest of the spinocerebellar degenerations, usually has autosomal recessive inheritance.


Manifestations include ataxia with skeletal defects such as pes cavus ( high arched foot), hammer toes and scoliosis, dysarthria, intention tremors, nystagmus, extensor plantars, loss of tendon reflexes, muscle wasting, and cardiomegaly, No effective treatment is available.

Death usually follows CCF.

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