title: Hereditary sensory and autonomic neuropathy with cataracts, mental retardation, and skin lesions: five cases.
abstract: We report the clinical and electrophysiologic data on five subjects from two families with severe sensory and autonomic neuropathy who also exhibited peroneal muscular atrophy with the electrophysiologic features of an axonopathy, congenital cataracts, mental retardation, and skin lesions. One patient had hearing loss. Autosomal recessive inheritance was probable in both families.
authors.affiliation: Neurology Unit, Groote Schuur Hospital, South Africa.
authors.forename: J M
authors.initials: JM
authors.lastname: Heckmann
authors.forename: J A
authors.initials: JA
authors.lastname: Carr
authors.forename: N
authors.initials: N
authors.lastname: Bell
mesh_terms: D000328:Adult; D002386:Cataract / Q000209:etiology* / Q000235:genetics; D004576:Electromyography; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012871:Skin Diseases / Q000209:etiology* / Q000235:genetics