Efficacy of deep brain stimulation in an adolescent patient with DYT11 myoclonus-dystonia
Efficacy of deep brain stimulation in an adolescent patient with DYT11 myoclonus-dystonia
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DOI：
10.1111/ncn3.75
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发表时间：
2014-03-01
影响因子：
0.4
通讯作者：
Mochizuki, Hideki
中科院分区：
文献类型：
--
作者：
Kimura, Yasuyoshi;Mihara, Masahito;Mochizuki, Hideki
肌阵挛-肌张力障碍是一种以肌阵挛痉挛和肌张力障碍为特征的运动障碍。我们在此报告一位18岁的日本男性患者，患有DYT11肌阵挛-肌张力障碍，他在2岁时出现肌阵挛。他在主要负责基因e-肌聚糖中存在一种新的杂合突变。由于药物治疗无效，肌阵挛变得无效，因此进行了双侧苍白球内侧深部脑刺激。手术后，他的症状明显改善。虽然深部脑刺激治疗肌阵挛-肌张力障碍的儿童或青少年的报道很少，但当症状，特别是肌阵挛变得难治、持续和致残时，应该考虑进行治疗。
Myoclonus-dystonia is a movement disorder characterized by myoclonic jerks and dystonia. We herein report the case of an 18-year-old Japanese male patient with DYT11 myoclonus-dystonia who developed myoclonic jerks at 2 years-of-age. He harbored a novel heterozygous mutation in the major responsible gene, e-sarcoglycan. As medication was ineffective and the myoclonus had become disabling, deep brain stimulation of the bilateral globus pallidus internus was carried out. After surgery, his symptoms showed overt improvement. Although reports of deep brain stimulation treatment in children or adolescents with myoclonus-dystonia are scarce, the treatment should be considered when symptoms, particularly myoclonus, become refractory, sustained and disabling.