脑深部电刺激术治疗肌阵挛肌张力障碍综合征三例并文献复习

Deep brain stimulation for the treatment of patients with myoclonus-dystonia syndrome(3 cases report and literature review)

目的观察脑深部电刺激术(DBS)治疗肌阵挛肌张力障碍综合征(myoclonus dystonia syndrome,MDS)的长期疗效。方法对3例MDS患者行DBS治疗,并进行术后随访。采用UMRS(unified myoclonus rating scale)肌阵挛量表和Burke-Fahn-Marsden肌张力障碍量表(Burke-Fahn-Marsden dystonia rating scale,BFMDRS)评价治疗效果并复习文献。结果本组患者采用丘脑腹外侧中间核DBS,开启刺激后,患者肌阵挛和肌张力障碍的症状均得到明显改善。1例患者因在术后第30个月开始出现新发部位的严重肌张力障碍,后加行双侧苍白球内侧部电刺激术。平均随访64.7个月,肌阵挛平均改善99.1%,肌张力障碍量表运动评分平均改善85.3%,功能障碍评分平均改善78.8%。经长期随访患者疗效稳定。结论 DBS对MDS有良好的治疗效果。

Objective To evaluate the long-term efficacy of bilateral deep brain stimulation(DBS)in patients with myoclonus-dystonia syndrome(MDS).Methods Three patients with medically intractable MDS underwent bilateral DBS,pre-and postoperative Unified Myoclonus Rating Scale(UMRS)and the Burke-Fahn-Marsden Dystonia Rating Scale(BFMDRS)were analyzed to evaluate the efficacy of DBS.Results Mean follow-up was 64.7 months.All the patient underwent bilateral ventral intermediate thalamus nucleus(Vim)DBS,which eliminated both myoclonus and dystonia.For one patient,because of worsening dystonia after initial improvement in symptoms,subsequent bilateral globus pallidus internus(GPi)DBS was offered.Overall,the mean improvement was 99.1%for myoclonus,85.3%for dystonia movement subscore and 78.8%for dystonia disability subscore at the last follow-up.Conclusions DBS can be an effective therapeutic option for MDS.