A Case Report of Myoclonus-Dystonia with Isolated Myoclonus Phenotype and Novel Mutation Successfully Treated with Deep Brain Stimulation

ConclusionOur case confirms the poor response to oral medications and supports the use of GPi DBS for patients with genetically confirmed myoclonus-dystonia and isolated-myoclonus phenotype. In addition, our case represents familial myoclonus-dystonia due to a novel SGCE mutation.

http://link.springer.com/10.1007/s40120-020-00186-4

Source: Neurology and Therapy - April 8, 2020 Category: Neurology Source Type: research