Neuromyotonia in the spinal form of Charcot-Marie-Tooth disease.
The term neuromyotonia has been applied to spontaneous activity of peripheral motor nerves which gives rise to pseudomyotonia, muscular fasciculations and myokymia. A family is described in which 8 members of 3 generations suffer from the spinal form of Charcto-Marie-Tooth disease (distal type of chronic spinal atrophy). 5 of the 8 members were examined and found to have myokymia, accentuated by voluntary muscle contraction. Pseudomyotonia was present in 2 patients and, in the 1 patient treated, was abolished by carbamazepine. The association between neuromyotonia and charcto-Marie-Tooth disease has been reported in only 7 patients before but may be more common than previously thought because muscle cramps are reported to be a feature of this disorder.
D000328:Adult; D000368:Aged; D002220:Carbamazepine / Q000627:therapeutic use; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D004576:Electromyography; D005207:Fasciculation / Q000175:diagnosis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009119:Muscle Contraction; D009133:Muscular Atrophy / Q000175:diagnosis*; D009431:Neural Conduction; D010375:Pedigree; D013577:Syndrome
D002220:Carbamazepine