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Updated: Sep 9, 2025
Author Spotlight: Repetitive Transcranial Magnetic Stimulation Combined with Movement Observation in Cerebral Palsy
Published on: August 9, 2024
Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained
Ainara Salazar-Villacorta1,2, Ana Cazurro-Gutiérrez3,4, Lucy Dougherty-de Miguel1,3
1Hospital Universitari Vall d'Hebrón, Barcelona, Spain.
Background:
Deep 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.
Objectives:
The aim was to evaluate motor and non-motor outcomes following DBS-GPi intervention in children and adolescents with SGCE-MD.
Methods:
Ten 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.
Results:
Significant 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).
Conclusions:
DBS-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.
