title: Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs.
abstract: A syndrome is described, consisting of severe neurogenic distal wasting, generalised muscle weakness, absent ankle reflexes, pyramidal signs, mental retardation, optic atrophy and retinal colloid bodies. A sural nerve biopsy from one case showed loss of nerve fibres suggesting the diagnosis of hereditary motor and sensory neuropathy. Progression of the disorder was very slow, all patients still being able to walk more than 20 years after the onset. The persons affected with this syndrome were two brothers and their female cousin from a large Gujerati pedigree where consanguinity was high. Autosomal recessive inheritance is therefore suggested.
mesh_terms: D000328:Adult; D005260:Female; D005808:Genes, Recessive; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008297:Male; D009133:Muscular Atrophy / Q000150:complications* / Q000235:genetics; D009896:Optic Atrophy / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D012021:Reflex, Abnormal / Q000150:complications* / Q000235:genetics