Hereditary motor and sensory neuropathies in Swedish children. III. De- and remyelinating type in 10 sporadic cases.
Clinical, neurophysiological and certain other laboratory data are given for 10 children considered to represent sporadic cases of de- and remyelinating hereditary motor and sensory neuropathies (HMSN). In all 10 families the parents had been found to be non-affected and said to be non-consanguineous. Nine of the 10 families originated from the two most northerly Swedish counties, but none from the Gothenburg area. The median age at clinical onset was 3 years. Gait abnormalities and/or foot deformities were common reasons for referral. Scoliosis developed in all 10 and hand atrophies in 7 children. In the majority there was neurological deterioration through childhood. Nerve conduction velocities, both motor and sensory, were consistently and markedly reduced. The protein level in cerebrospinal fluid (medium 657 mg/l) was slightly to moderately raised in 7 of 9 examined children and greater than or equal to 1 500 mg/l in the remaining two. The fatty acid pattern of serum lecithin was consistently normal in all 10.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D006984:Hypertrophy; D007223:Infant; D008297:Male; D009133:Muscular Atrophy / Q000453:epidemiology* / Q000235:genetics; D009443:Neuritis / Q000453:epidemiology* / Q000235:genetics; D012600:Scoliosis / Q000453:epidemiology / Q000235:genetics; D013548:Sweden; D013577:Syndrome