108 167

A patient with genetically confirmed myoclonus-dystonia responded to anticholinergic treatment and improved spontaneously

Authors
 Jae Hyeok Lee  ;  Chul Hyoung Lyoo  ;  Myung Sik Lee 
Citation
 Journal of Clinical Neurology, Vol.7(4) : 231-232, 2011 
Journal Title
 Journal of Clinical Neurology 
ISSN
 1738-6586 
Issue Date
2011
Abstract
BACKGROUND: The various medical treatments applied to myoclonus-dystonia patients with a mutation of the ε-sarcoglycan gene (SGCE) have not been beneficial in most cases. Most patients experience progressive deterioration or static clinical courses, with only rare cases of spontaneous remission. CASE REPORT: A 19-year-old girl presented with a 14-year history of myoclonus and dystonia that severely affected her left arm, neck, and trunk. Genetic studies showed a mutation in SGCE [deletion in exon 6 (c.771_772delAT, Cys258X)]. Both myoclonus and dystonia responded to anticholinergic treatment for 7 years and improved spontaneously. CONCLUSIONS: The possibility of spontaneous improvement should be kept in mind when considering the therapeutic strategy in myoclonus-dystonia patients, especially when contemplating deep-brain stimulation.
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/95292
Files in This Item:
T201193950.pdf Download
DOI
10.3988/jcn.2011.7.4.231
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실)
Yonsei Authors
류철형(Lyoo, Chul Hyoung)
이명식(Lee, Myung Sik)
Export
RIS (EndNote)
XLS (Excel)
XML
사서에게 알리기
  feedback

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse