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

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

Abstract Introduction Myoclonus-dystonia is an inherited disorder characterized by a combination of myoclonic jerks and dystonia. Mutations in the epsilon-sarcoglycan gene (SGCE) represent the main known genetic cause. In the last few years, deep brain stimulation (DBS) has shown significant promise...

Full description

Bibliographic Details
Main Authors: Valentina Besa Lehmann, Marc Rosenbaum, Dennis E. Bulman, Tara Read, Leo Verhagen Metman
Format: Article
Language:English
Published: Adis, Springer Healthcare 2020-04-01
Series:Neurology and Therapy
Subjects:
Deep brain stimulation
Myoclonus-dystonia
Myoclonic jerks
SGCE gene
Unified Myoclonus Rating Scale
Online Access:https://doi.org/10.1007/s40120-020-00186-4

Internet

https://doi.org/10.1007/s40120-020-00186-4

Similar Items