A Patient with Genetically Confirmed Myoclonus-Dystonia Responded to Anticholinergic Treatment and Improved Spontaneously.
- Author:
Jae Hyeok LEE
1
;
Chul Hyoung LYOO
;
Myung Sik LEE
Author Information
- Publication Type:Case Report
- Keywords: myoclonus; dystonia; anticholinergics; spontaneous remission
- MeSH: Arm; Cholinergic Antagonists; Dystonia; Exons; Humans; Myoclonus; Neck; Remission, Spontaneous; Sarcoglycans; Young Adult
- From:Journal of Clinical Neurology 2011;7(4):231-232
- CountryRepublic of Korea
- Language:English
- Abstract: BACKGROUND: The various medical treatments applied to myoclonus-dystonia patients with a mutation of the epsilon-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.
