X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.
We report on a family with an apparently X-linked neuromuscular disease. Electrophysiologic tests and electron microscopic studies are consistent with the diagnosis of hereditary motor sensory neuropathy type II (HMSN-II), one form of Charcot-Marie-Tooth disease. The manner of inheritance, the observation that males are severely affected from infancy, and the frequent association of deafness and/or mental retardation with the neuromuscular disorder are not usual for HMSN-II and suggest that this family may have a previously undescribed genetic disorder. The peripheral neuropathy did not appear to be linked to the Xg blood group. Minor abnormalities of sensory nerve conduction, electromyography, and hearing were separately identified in female relatives in this family, but were not consistent enough to be useful in the identification of carriers for this gene.
D000328:Adult; D001299:Audiometry; D001706:Biopsy; D001789:Blood Group Antigens; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D004576:Electromyography; D004594:Electrophysiology; D005260:Female; D008040:Genetic Linkage; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009431:Neural Conduction; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology; D013577:Syndrome; D014960:X Chromosome
D001789:Blood Group Antigens