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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Neurol Ther
Hlavní autoři: Besa Lehmann, Valentina, Rosenbaum, Marc, Bulman, Dennis E., Read, Tara, Verhagen Metman, Leo
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Healthcare 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7229070/
https://ncbi.nlm.nih.gov/pubmed/32274660
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s40120-020-00186-4
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky