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Updated: May 25, 2026

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
Published on: September 12, 2020
A patient with genetically confirmed myoclonus-dystonia responded to anticholinergic treatment and improved
Jae Hyeok Lee1, Chul Hyoung Lyoo, Myung Sik Lee
1Department of Neurology, Pusan National University Yangsan Hospital, Yangsan, Korea.
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.
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