Hereditary essential myoclonus.
A Scandinavian family whose members have suffered from hereditary essential myoclonus for five generations are presented. Three patients showed a uniform clinical picture with myoclonic jerks located in the upper trunk, the neck and proximal parts of the upper extremities without any other symptom or sign of CNS-dysfunction. The laboratory findings including EEG and somatosensory evoked potentials (SEP) were normal. Diagnostic criteria are discussed. Treatment was relatively ineffective.
D000328:Adult; D002648:Child; D004569:Electroencephalography; D004576:Electromyography; D005073:Evoked Potentials, Somatosensory; D006801:Humans; D008297:Male; D009207:Myoclonus / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D010375:Pedigree