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

Jae Hyeok Lee, Chulhyoung Lyoo, Myung Sik Lee

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Background The various medical treatments applied to myoclonus-dystonia patients with a mutation of the e-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.

Original languageEnglish
Pages (from-to)231-232
Number of pages2
JournalJournal of Clinical Neurology (Korea)
Volume7
Issue number4
DOIs
Publication statusPublished - 2011 Jan 1

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Cholinergic Antagonists
Sarcoglycans
Spontaneous Remission
Mutation
Deep Brain Stimulation
Gene Deletion
Therapeutics
Exons
Arm
Neck
Myoclonic dystonia
Genes

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

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abstract = "Background The various medical treatments applied to myoclonus-dystonia patients with a mutation of the e-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.",
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A patient with genetically confirmed myoclonus-dystonia responded to anticholinergic treatment and improved spontaneously. / Lee, Jae Hyeok; Lyoo, Chulhyoung; Lee, Myung Sik.

In: Journal of Clinical Neurology (Korea), Vol. 7, No. 4, 01.01.2011, p. 231-232.

Research output: Contribution to journalArticle

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