Deep Brain Stimulation in Children and Adolescents with ε‐Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life

IF 7.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders Pub Date : 2025-08-02 DOI:10.1002/mds.30309

Ainara Salazar‐Villacorta, Ana Cazurro‐Gutiérrez, Lucy Dougherty‐de Miguel, Julia Ferrero‐Turrión, Anna Marcé‐Grau, Marta Folch‐Benito, Álvaro Lucero‐Garófano, Alfons Macaya, Antonio Moreno‐Galdó, Maria I. Vanegas, Marta Correa‐Vela, María Victoria González, Gemma Español‐Martín, Martha Loredo, Ignacio Delgado, Esther Toro‐Tamargo, Margarita Figueroa, Dolores Vilas, Manel Tardáguila, Jorge Muñoz, Lourdes Ispierto, Ramiro Álvarez, Agustí Bescós, Belén Pérez‐Dueñas

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引用次数: 0

Abstract

BackgroundDeep brain stimulation of the globus pallidus internus (DBS‐GPi) has shown efficacy in adult patients with SGCE‐related myoclonus dystonia. However, evidence regarding its impact in pediatric populations is limited.ObjectivesThe aim was to evaluate motor and non‐motor outcomes following DBS‐GPi intervention in children and adolescents with SGCE‐MD.MethodsTen patients (mean age 12.8 ± 3.4 years) underwent DBS‐GPi. Blinded experts rated patients with the Unified Myoclonus, Burke‐Fahn‐Marsden, Writer's cramp and Gait Dystonia rating scales. Psychiatric and quality‐of‐life outcomes were evaluated using the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria and Quality of Life in Neurological Disorders.ResultsSignificant improvements were observed in myoclonus (68.1%), generalized dystonia (63.2%), and dystonia during writing (48.1%), walking (70.3%) and running (44.2%) after 3.8 ± 2.4 years of the surgery. Psychiatric symptoms remained stable, while quality‐of‐life assessments revealed reductions in anxiety, fatigue, and stigma (P < 0.05).ConclusionsDBS‐GPi in children with SGCE‐myoclonus dystonia mitigates long‐term disability, potentially enhancing academic, social, and professional prospects. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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脑深部电刺激治疗ε -肌糖原性肌阵挛性肌张力障碍的儿童和青少年可持续改善运动功能和生活质量

脑深部刺激内苍白球（DBS - GPi）已显示出对SGCE相关肌阵挛性肌张力障碍成年患者的疗效。然而，关于其对儿科人群影响的证据有限。目的：评估儿童和青少年SGCE - MD患者DBS - GPi干预后的运动和非运动预后。方法10例患者（平均年龄12.8±3.4岁）接受DBS - GPi治疗。盲法专家对统一肌阵挛、Burke - Fahn - Marsden、Writer's痉挛和步态肌张力障碍评分量表的患者进行评分。使用《精神疾病诊断与统计手册》第五版标准和神经系统疾病的生活质量评估精神病学和生活质量结果。结果术后3.8±2.4年，肌阵挛（68.1%）、全身性肌张力障碍（63.2%）、书写肌张力障碍（48.1%）、行走肌张力障碍（70.3%）、跑步肌张力障碍（44.2%）均有显著改善。精神症状保持稳定，而生活质量评估显示焦虑、疲劳和耻辱感减少(P <；0.05)。结论：SGCE -肌阵挛性肌张力障碍患儿的sdbs - GPi可减轻长期残疾，潜在地增强学术、社会和职业前景。©2025作者。Wiley期刊有限责任公司代表国际帕金森和运动障碍学会出版的《运动障碍》。

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来源期刊

Movement Disorders 医学-临床神经学

CiteScore

13.30

自引率

8.10%

发文量

371

审稿时长

12 months

期刊介绍： Movement Disorders publishes a variety of content types including Reviews, Viewpoints, Full Length Articles, Historical Reports, Brief Reports, and Letters. The journal considers original manuscripts on topics related to the diagnosis, therapeutics, pharmacology, biochemistry, physiology, etiology, genetics, and epidemiology of movement disorders. Appropriate topics include Parkinsonism, Chorea, Tremors, Dystonia, Myoclonus, Tics, Tardive Dyskinesia, Spasticity, and Ataxia.