BRIEF RESEARCH REPORT
Dystonia
Volume 4 - 2025 | doi: 10.3389/dyst.2025.14485
This article is part of the Special IssueTreatment Options in DystoniaView all 3 articles
Challenges in Deep Brain Stimulation for DYT-11: A single center troubleshooting experience
Matthew Aaron Remz1*
Vedant Garg1Kara A Johnson1Ka Loong Kelvin Au2Abbas Babajani-Feremi1,3Venkat Srikar Lavu1Coralie de Hemptinne1
Joshua K Wong1- 1Norman Fixel Institute for Neurological Diseases, Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, United States
- 2Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, United States
- 3Magnetoencephalography (MEG) Lab, The Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, United States
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Introduction: DYT-11 is a form of myoclonus dystonia (MD) characterized by involuntary muscle jerks and abnormal postures attributable to a variant in the epsilon sarcoglycan (SGCE) gene. Treatment with pallidal deep brain stimulation (GPi-DBS) is effective, but prior studies have highlighted brisk and facile responses to stimulation.While medically refractory cases are common, the literature lacks cases refractory to initial surgical therapy and there are no reports of advanced programming or DBS revision surgery. Our series aims to provide insight into the advanced management of these patients.Patients treated for genetically confirmed DYT-11 with DBS were identified.Retrospective chart review was performed.We report two cases of DYT-11 sub-optimally responsive to DBS that were successfully treated with DBS revision surgery. Lead revision and subsequent programming provided a significant improvement in symptoms. We also report a case of a patient with DYT-11 who was successfully treated with DBS but required advanced programming to achieve best benefit. Discussion: We present three cases of DYT-11 that required advanced care to achieve successful treatment with DBS. These approaches have not previously been published in DYT-11 and highlight heterogeneity of response in this disorder. Further studies are needed to investigate optimal strategies for DBS troubleshooting in DYT-11 such as characterizing electrophysiology and brain connectomics.
Keywords: Dystonia, myoclonus, myoclonus-dystonia, Deep brain stimulation, electrophysiology
Received: 11 Feb 2025; Accepted: 18 Jun 2025.
Copyright: © 2025 Remz, Garg, Johnson, Au, Babajani-Feremi, Lavu, de Hemptinne and Wong. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Matthew Aaron Remz, Norman Fixel Institute for Neurological Diseases, Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, United States
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.