Autosomal recessive generalized myotonia.
Two siblings and a first degree cousin of a consanguinous marriage were afflicted with recessive generalized myotonia (RGMy). All had muscle weakness which was particularly prominent after rest, thinning of the forearms, weakness of anterior compartment muscles, and muscular contractures. The first degree cousin was the most severely afflicted with congenital myotonia. Muscle biopsy and electromyography were consistent with a myopathy. Exercise after rest demonstrated a marked reduction in muscle membrane excitability in all patients.
D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004576:Electromyography; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009119:Muscle Contraction; D009224:Myotonia Congenita / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree