ABSTRACT Myoclonus-dystonia is a movement disorder characterized by myoclonic jerks and dystonia. We herein report the case of an 18-year-old Japanese male patient with DYT11 myoclonus-dystonia who developed myoclonic jerks at age two. He...
moreABSTRACT Myoclonus-dystonia is a movement disorder characterized by myoclonic jerks and dystonia. We herein report the case of an 18-year-old Japanese male patient with DYT11 myoclonus-dystonia who developed myoclonic jerks at age two. He harbored a novel heterozygous mutation in the major responsible gene, ε-sarcoglycan. Since medication was ineffective and the myoclonus had become disabling, deep brain stimulation of the bilateral globus pallidus internus was performed. After surgery, his symptoms showed overt improvement. Although reports of DBS treatment in children or adolescents with myoclonus-dystonia are scarce, the treatment should be considered when symptoms, particularly myoclonus, become refractory, sustained and disabling. This article is protected by copyright. All rights reserved.
