Familial syndrome of deafness, myoclonus, and cerebellar ataxia.
We report a case of identical twins with progressive sensorineural hearing loss, myoclonus, intention tremor, and ataxia. The involved member of the family may suggest of autosomal dominant transmission with variable penetrance.
D000328:Adult; D002524:Cerebellar Ataxia / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D009207:Myoclonus / Q000235:genetics*; D011247:Pregnancy; D013577:Syndrome; D014202:Tremor / Q000235:genetics; D014430:Twins, Monozygotic