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Hereditary essential myoclonus

ABSTRACT – 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.