Challenges in deep brain stimulation for DYT-11: a single center troubleshooting experience
IntroductionDYT-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 an...
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Frontiers Media S.A.
2025-07-01
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| Series: | Dystonia |
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| Online Access: | https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14485/full |
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| author | Matthew Aaron Remz Vedant Garg Kara A. Johnson Ka Loong Kelvin Au Abbas Babajani-Feremi Abbas Babajani-Feremi Venkat Srikar Lavu Coralie de Hemptinne Joshua K. Wong |
| author_facet | Matthew Aaron Remz Vedant Garg Kara A. Johnson Ka Loong Kelvin Au Abbas Babajani-Feremi Abbas Babajani-Feremi Venkat Srikar Lavu Coralie de Hemptinne Joshua K. Wong |
| author_sort | Matthew Aaron Remz |
| collection | DOAJ |
| description | IntroductionDYT-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.MethodsPatients treated for genetically confirmed DYT-11 with DBS were identified. Retrospective chart review was performed.ResultsWe 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.DiscussionWe 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. |
| format | Article |
| id | doaj-art-68ebac63a0db497c9f19caaf21bb389f |
| institution | OA Journals |
| issn | 2813-2106 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Dystonia |
| spelling | doaj-art-68ebac63a0db497c9f19caaf21bb389f2025-08-20T02:37:09ZengFrontiers Media S.A.Dystonia2813-21062025-07-01410.3389/dyst.2025.1448514485Challenges in deep brain stimulation for DYT-11: a single center troubleshooting experienceMatthew Aaron Remz0Vedant Garg1Kara A. Johnson2Ka Loong Kelvin Au3Abbas Babajani-Feremi4Abbas Babajani-Feremi5Venkat Srikar Lavu6Coralie de Hemptinne7Joshua K. Wong8Norman Fixel Institute for Neurological Diseases, Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, United StatesNorman Fixel Institute for Neurological Diseases, Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, United StatesNorman Fixel Institute for Neurological Diseases, Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, United StatesDepartment of Neurology, University of Kansas Medical Center, Kansas City, KS, United StatesNorman Fixel Institute for Neurological Diseases, Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, United StatesMagnetoencephalography (MEG) Lab, The Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, United StatesNorman Fixel Institute for Neurological Diseases, Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, United StatesNorman Fixel Institute for Neurological Diseases, Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, United StatesNorman Fixel Institute for Neurological Diseases, Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, United StatesIntroductionDYT-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.MethodsPatients treated for genetically confirmed DYT-11 with DBS were identified. Retrospective chart review was performed.ResultsWe 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.DiscussionWe 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.https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14485/fulldystoniamyoclonusmyoclonus-dystoniadeep brain stimulationelectrophysiology |
| spellingShingle | Matthew Aaron Remz Vedant Garg Kara A. Johnson Ka Loong Kelvin Au Abbas Babajani-Feremi Abbas Babajani-Feremi Venkat Srikar Lavu Coralie de Hemptinne Joshua K. Wong Challenges in deep brain stimulation for DYT-11: a single center troubleshooting experience Dystonia dystonia myoclonus myoclonus-dystonia deep brain stimulation electrophysiology |
| title | Challenges in deep brain stimulation for DYT-11: a single center troubleshooting experience |
| title_full | Challenges in deep brain stimulation for DYT-11: a single center troubleshooting experience |
| title_fullStr | Challenges in deep brain stimulation for DYT-11: a single center troubleshooting experience |
| title_full_unstemmed | Challenges in deep brain stimulation for DYT-11: a single center troubleshooting experience |
| title_short | Challenges in deep brain stimulation for DYT-11: a single center troubleshooting experience |
| title_sort | challenges in deep brain stimulation for dyt 11 a single center troubleshooting experience |
| topic | dystonia myoclonus myoclonus-dystonia deep brain stimulation electrophysiology |
| url | https://www.frontierspartnerships.org/articles/10.3389/dyst.2025.14485/full |
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