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肌张力障碍性肌阵挛综合征一例的早期手术治疗

Early surgical treatment in a case of myoclonus dystonia syndrome.

作者信息

Kühn Andrea A, Krause Patricia, Lauritsch Katharina, Zentner Christian, Brücke Christof, Schneider Gerd-Helge

机构信息

Department of Neurology, Charité-University Medicine, Berlin, Germany

Department of Neurology, Charité-University Medicine, Berlin, Germany.

出版信息

J Child Neurol. 2014 Nov;29(11):NP149-50. doi: 10.1177/0883073813513071. Epub 2014 Jan 21.

DOI:10.1177/0883073813513071
PMID:24453142
Abstract

Myoclonus dystonia syndrome is often misdiagnosed in young children and appropriate treatment is delayed, which has a negative impact on motor development, participation, and emotional well-being. In severely affected patients, deep brain stimulation of the globus pallidus internus has been used successfully to treat both dystonia and myoclonus. Here, the authors present a case of early successful treatment of myoclonus dystonia syndrome by pallidal deep brain stimulation in a patient at the age of 17 years leading to 83% reduction in dystonia score and 89% reduction in myoclonus. The patient gained significant improvement in motor function as well as increased participation and reduced stigma.

摘要

肌阵挛性肌张力障碍综合征在幼儿中常被误诊,适当治疗被延误,这对运动发育、参与度和情绪健康产生负面影响。在严重受影响的患者中,内侧苍白球的深部脑刺激已成功用于治疗肌张力障碍和肌阵挛。在此,作者介绍了一例17岁患者通过苍白球深部脑刺激早期成功治疗肌阵挛性肌张力障碍综合征的病例,导致肌张力障碍评分降低83%,肌阵挛降低89%。患者的运动功能得到显著改善,参与度增加,耻辱感减轻。

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引用本文的文献

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Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data.深部脑刺激治疗肌阵挛-肌张力障碍综合征:一项个体患者数据的荟萃分析。
Neurosurg Rev. 2021 Feb;44(1):451-462. doi: 10.1007/s10143-019-01233-x. Epub 2020 Jan 3.
2
A Case of Myoclonus-Dystonia Responding to Low-frequency Pallidal Stimulation.一例对低频苍白球刺激有反应的肌阵挛性肌张力障碍病例。
Tremor Other Hyperkinet Mov (N Y). 2017 May 5;7:460. doi: 10.7916/D82Z1BS4. eCollection 2017.
3
Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11.
深部脑刺激治疗 DYT1 和 DYT11 双突变所致肌阵挛-肌张力障碍综合征。
Sci Rep. 2017 Jan 19;7:41042. doi: 10.1038/srep41042.
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Medical treatment of dystonia.肌张力障碍的医学治疗。
J Clin Mov Disord. 2016 Dec 19;3:19. doi: 10.1186/s40734-016-0047-6. eCollection 2016.
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Improvement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation.苍白球深部脑刺激术后肌阵挛性肌张力障碍中孤立性肌阵挛表型的改善
Tremor Other Hyperkinet Mov (N Y). 2016 Mar 9;6:369. doi: 10.7916/D8F47P0C. eCollection 2016.