Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex.
A family is described in which a hereditary peripheral neuropathy occurs, inherited as an autosomal dominant character. The syndrome is present at birth and does not show any significant progression thereafter. Three of the cases have suffered from arthrogryposis multiplex congenita. A secondary myopathy is also present. The condition appears to be intermediary between peroneal muscular atrophy and Friedreich's ataxia. Appearance at birth, presence of arthrogryposis multiplex congenita, and the non-progressive nature separate it sharply from the other heredofamilial ataxias and peripheral neuropathies.
D000328:Adult; D001176:Arthrogryposis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D013118:Spinal Cord Diseases / Q000175:diagnosis / Q000235:genetics*