Efficacy of deep brain stimulation in an adolescent patient with DYT11 myoclonus-dystonia

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 2 years-of-age. He harbored a novel heterozygous mutation in the major responsible gene, ε-sarcoglycan. As medication was ineffective and the myoclonus had become disabling, deep brain stimulation of the bilateral globus pallidus internus was carried out. After surgery, his symptoms showed overt improvement. Although reports of deep brain stimulation treatment in children or adolescents with myoclonus-dystonia are scarce, the treatment should be considered when symptoms, particularly myoclonus, become refractory, sustained and disabling.