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

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.

• Authors: Jae Hyeok Lee, Chul Hyoung Lyoo, Myung Sik Lee
• Journal: Journal of clinical neurology (Seoul, Korea) (J Clin Neurol) Vol. 7 Issue 4 Pg. 231-2 (Dec 2011) ISSN: 2005-5013 [Electronic] Korea (South)
• PMID: 22259621 (Publication Type: Journal Article)