Tetrabenazine-responsive SGCE myoclonus-dystonia with delayed diagnosis: A case report

Cansu Kostakoğlu Duman; Özlem Polen Erdoğan; Yeşim Sücüllü Karadağ

doi:10.5606/phhb.dergisi.2026.53

Cansu Kostakoğlu Duman¹, Özlem Polen Erdoğan², Yeşim Sücüllü Karadağ²

¹Department of Neurology, Gaziantep Abdülkadir Yüksel State Hospital, Gaziantep, Türkiye
²Department of Neurology, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Türkiye

Keywords: Cervical dystonia, epsilon-sarcoglycan, myoclonus-dystonia syndrome, SGCE gene, tetrabenazine.

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.