Early onset hereditary spinocerebellar ataxia: an autosomal recessive disorder distinct from Friedreich's ataxia.
The important clinical features of seven patients with an early onset slowly progressive heredofamilial spinocerebellar degenerative disorder of probably autosomal recessive inheritance included limb ataxia, retained and/or exaggerated tendon reflexes (biceps and knee), pyramidal weakness of lower limbs and normal sensory action potentials. This rare disorder is probably distinct from Friedreich's ataxia and carries a better prognosis.
Kumar
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D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis*; D006801:Humans; D008297:Male; D013132:Spinocerebellar Degenerations / Q000175:diagnosis* / Q000235:genetics