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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 ?-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.

SUBMITTER: Lee JH

PROVIDER: S-EPMC3259499 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature

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

Lee Jae Hyeok JH Lyoo Chul Hyoung CH Lee Myung Sik MS

Journal of clinical neurology (Seoul, Korea) 20111229 4

<h4>Background</h4>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.<h4>Case report</h4>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 [de ...[more]

PMID: 22259621

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