Challenges in deep brain stimulation for DYT-11: a single center troubleshooting experience

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. Methods Patients treated for genetically confirmed DYT-11 with DBS were identified. Retrospective chart review was performed. Results 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.