Bilateral deep brain stimulation of the pallidum for XXXX due to   -sarcoglycan mutations: a pilot study.

@entity1 @entity2045 @entity2474 @entity3519 @entity717 @entity20142
OBJECTIVE: To assess the efficacy of bilateral deep brain stimulation of the internal pallidum in @entity1 with @entity2474 due to genetically proved   -sarcoglycan ( @entity20142 -M-D) deficiency. DESIGN: @entity1 with documented @entity20142 -M-D undergoing bilateral deep brain stimulation of the internal pallidum were recruited. Standardized assessments of M-D were videorecorded before surgery and 6 to 9 months and 15 to 18 months after surgery, using the movement and disability subscales of the Burke-Fahn-Marsden Dystonia Rating Scale and the Unified @entity2045 Rating Scale. The analysis was based on blinded evaluation of the recordings. SETTING: @entity717 unit in a university hospital in Paris. @entity1 : Five consecutive @entity1 with documented @entity20142 -M-D. MAIN OUTCOME MEASURES: @entity2045 and @entity3519 scores at follow-up. RESULTS: The median myoclonus score decreased from 76 before surgery (range, 38-116) to 10 at 6 to 9 months after surgery (range, 6-31). The median @entity3519 score decreased from 30.0 before surgery (range, 18.5-53.0) to 4.5 after surgery (range, 3.5-16.0). Disability was also improved and symptoms remained stable between the postoperative evaluations. No adverse effects occurred. CONCLUSIONS: Bilateral deep brain stimulation of the internal pallidum is safe and highly effective in this homogeneous population of @entity1 with @entity20142 -M-D. This therapeutic option should therefore be considered for @entity1 with severe, drug-resistant forms of the disorder.
