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

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. A 19-year-old g...

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Bibliographic Details
Published in:Journal of clinical neurology (Seoul, Korea) 2011, 7(4), , pp.231-232
Main Authors: Lee, Jae Hyeok, Lyoo, Chul Hyoung, Lee, Myung Sik
Format: Article
Language:English
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Case Report
신경과학
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Summary: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. 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. 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.
ISSN:1738-6586
2005-5013
DOI:10.3988/jcn.2011.7.4.231