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

Authors
 류철형 ; 이명식 
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
http://ir.ymlib.yonsei.ac.kr/handle/22282913/95292
DOI
10.3988/jcn.2011.7.4.231
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Neurology
Yonsei Authors
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