Abstract

Myoclonus-dystonia syndrome (MDS) is a rare genetic movement disorder characterized by the combination of myoclonus and dystonia. It typically manifests during the first two decades of life, with mutations in the epsilon-sarcoglycan (SGCE) gene being the most commonly implicated cause. We present a case of SGCE-related MDS in a 19-year-old female who exhibited prominent upperbody myoclonus and mild cervical dystonia. This case supports the potential effectiveness of tetrabenazine in SGCE-related MDS and contributes to the limited but growing body of literature on its use in hyperkinetic movement disorders.

Cite this article as: Kostakoğlu Duman C, Polen Erdoğan Ö, Sücüllü Karadağ Y. Tetrabenazine-responsive SGCE myoclonus-dystonia with delayed diagnosis: A case report. Parkinson Hast Harek Boz Derg 2026;29(1):26-28. doi: 10.5606/phhb.dergisi.2026.53.

C.K.D.: Idea/concept, Design, data collection and/or processing, analysis and/or interpretation, literature review, writing the article; Ö.P.E.: References and fundings, materials; Y.S.K.: Control/supervision, critical review.

The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.

The authors received no financial support for the research and/or authorship of this article.

The data that support the findings of this study are available from the corresponding author upon reasonable request.

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