Peroneal muscular atrophy and epilepsy with cerebellar ataxia and choreoathetosis in the same family.
Seven members in three generations of a family are affected with peroneal muscular atrophy. Five have the disorder in combination with epilepsy. The proposita exhibits a cerebellar syndrome, she and one brother show choreiform movements, and she, her mother and a great-uncle have pes cavus. One member has EEG abnormalities but no muscular atrophy. The familial occurrence of this combination of symptoms has not been described before. In this family the syndrome is transmitted as an autosomal dominant with variable expressivity.
D000328:Adult; D001264:Athetosis / Q000235:genetics* / Q000473:pathology; D001706:Biopsy; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000473:pathology; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000235:genetics*; D010375:Pedigree