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

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 in trea...

Descripción completa

Detalles Bibliográficos
Autores principales: Besa Lehmann, Valentina, Rosenbaum, Marc, Bulman, Dennis E., Read, Tara, Verhagen Metman, Leo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Healthcare 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229070/
https://www.ncbi.nlm.nih.gov/pubmed/32274660
http://dx.doi.org/10.1007/s40120-020-00186-4

Ejemplares similares

Ejemplares similares