J Clin Neurol.  2011 Dec;7(4):231-232. 10.3988/jcn.2011.7.4.231.

A Patient with Genetically Confirmed Myoclonus-Dystonia Responded to Anticholinergic Treatment and Improved Spontaneously

• Lee JH
• Lyoo CH
• Lee MS

• KMID: 2179010
• DOI: http://doi.org/10.3988/jcn.2011.7.4.231

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.

Keyword

myoclonus; dystonia; anticholinergics; spontaneous remission

MeSH Terms

Arm
Cholinergic Antagonists
Dystonia
Exons
Humans
Myoclonus
Neck
Remission, Spontaneous
Sarcoglycans
Young Adult
Cholinergic Antagonists
Sarcoglycans

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