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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
Keywords
anticholinergics ; dystonia ; myoclonus ; spontaneous remission
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.
Files in This Item:
T201193950.pdf Download
DOI
10.3988/jcn.2011.7.4.231
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Lyoo, Chul Hyoung(류철형) ORCID logo https://orcid.org/0000-0003-2231-672X
Lee, Myung Sik(이명식) ORCID logo https://orcid.org/0000-0002-8413-1854
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/95292
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