Deep Brain Stimulation in Children and Adolescents with ε‐Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life Article Swipe
Ainara Salazar‐Villacorta
,
Ana Cazurro‐Gutiérrez
,
Lucía Dougherty‐de Miguel
,
Julia Ferrero Turrión
,
Anna Marcé‐Grau
,
Marta Folch‐Benito
,
Álvaro Lucero‐Garófano
,
Alfons Macaya
,
Antonio Moreno
,
Maria Vanegas
,
Marta Correa‐Vela
,
Victoria González
,
Gemma Español‐Martín
,
Martha Loredo
,
Isabella Canal Delgado
,
Esther Toro‐Tamargo
,
M. Figueroa
,
Dolores Vilas
,
Manel Tardáguila
,
Jorge Muñoz
,
Lourdes Ispierto
,
Ramiro Álvarez
,
A. Bescós
,
Belén Pérez‐Dueñas
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1002/mds.30309
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1002/mds.30309
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.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/mds.30309
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.30309
- OA Status
- hybrid
- References
- 28
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4412849014
All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W4412849014Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1002/mds.30309Digital Object Identifier
- Title
-
Deep Brain Stimulation in Children and Adolescents with ε‐Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of LifeWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-08-01Full publication date if available
- Authors
-
Ainara Salazar‐Villacorta, Ana Cazurro‐Gutiérrez, Lucía Dougherty‐de Miguel, Julia Ferrero Turrión, Anna Marcé‐Grau, Marta Folch‐Benito, Álvaro Lucero‐Garófano, Alfons Macaya, Antonio Moreno, Maria Vanegas, Marta Correa‐Vela, Victoria González, Gemma Español‐Martín, Martha Loredo, Isabella Canal Delgado, Esther Toro‐Tamargo, M. Figueroa, Dolores Vilas, Manel Tardáguila, Jorge Muñoz, Lourdes Ispierto, Ramiro Álvarez, A. Bescós, Belén Pérez‐DueñasList of authors in order
- Landing page
-
https://doi.org/10.1002/mds.30309Publisher landing page
- PDF URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.30309Direct link to full text PDF
- Open access
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YesWhether a free full text is available
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hybridOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.30309Direct OA link when available
- Concepts
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Dystonia, Myoclonus, Deep brain stimulation, Physical medicine and rehabilitation, Quality of life (healthcare), Stimulation, Medicine, Neuroscience, Progressive myoclonus epilepsy, Psychology, Psychotherapist, Internal medicine, Parkinson's disease, DiseaseTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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28Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.Results | 104 |
| abstract_inverted_index.Unified | 69 |
| abstract_inverted_index.experts | 64 |
| abstract_inverted_index.running | 123 |
| abstract_inverted_index.scales. | 78 |
| abstract_inverted_index.social, | 165 |
| abstract_inverted_index.stable, | 136 |
| abstract_inverted_index.walking | 120 |
| abstract_inverted_index.writing | 118 |
| abstract_inverted_index.(48.1%), | 119 |
| abstract_inverted_index.(63.2%), | 114 |
| abstract_inverted_index.(68.1%), | 111 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.Disorder | 187 |
| abstract_inverted_index.Dystonia | 76 |
| abstract_inverted_index.However, | 22 |
| abstract_inverted_index.Movement | 173, 186 |
| abstract_inverted_index.Society. | 188 |
| abstract_inverted_index.Writer's | 72 |
| abstract_inverted_index.anxiety, | 143 |
| abstract_inverted_index.children | 46, 154 |
| abstract_inverted_index.criteria | 96 |
| abstract_inverted_index.dystonia | 113, 116, 158 |
| abstract_inverted_index.efficacy | 13 |
| abstract_inverted_index.evaluate | 37 |
| abstract_inverted_index.evidence | 23 |
| abstract_inverted_index.fatigue, | 144 |
| abstract_inverted_index.internus | 9 |
| abstract_inverted_index.limited. | 31 |
| abstract_inverted_index.observed | 108 |
| abstract_inverted_index.outcomes | 41, 82 |
| abstract_inverted_index.pallidus | 8 |
| abstract_inverted_index.patients | 16, 54, 66 |
| abstract_inverted_index.remained | 135 |
| abstract_inverted_index.revealed | 140 |
| abstract_inverted_index.surgery. | 132 |
| abstract_inverted_index.symptoms | 134 |
| abstract_inverted_index.DBS‐GPi | 43, 152 |
| abstract_inverted_index.Disorders | 174 |
| abstract_inverted_index.Parkinson | 184 |
| abstract_inverted_index.academic, | 164 |
| abstract_inverted_index.dystonia. | 21 |
| abstract_inverted_index.enhancing | 163 |
| abstract_inverted_index.evaluated | 84 |
| abstract_inverted_index.following | 42 |
| abstract_inverted_index.mitigates | 159 |
| abstract_inverted_index.myoclonus | 20, 110 |
| abstract_inverted_index.pediatric | 28 |
| abstract_inverted_index.published | 175 |
| abstract_inverted_index.regarding | 24 |
| abstract_inverted_index.underwent | 61 |
| abstract_inverted_index.Author(s). | 172 |
| abstract_inverted_index.Background | 1 |
| abstract_inverted_index.DBS‐GPi. | 62 |
| abstract_inverted_index.Diagnostic | 87 |
| abstract_inverted_index.Disorders, | 93 |
| abstract_inverted_index.Disorders. | 103 |
| abstract_inverted_index.Myoclonus, | 70 |
| abstract_inverted_index.Objectives | 32 |
| abstract_inverted_index.prospects. | 168 |
| abstract_inverted_index.reductions | 141 |
| abstract_inverted_index.‐related | 19 |
| abstract_inverted_index.(DBS‐GPi) | 10 |
| abstract_inverted_index.Conclusions | 151 |
| abstract_inverted_index.Periodicals | 178 |
| abstract_inverted_index.Psychiatric | 79, 133 |
| abstract_inverted_index.Significant | 105 |
| abstract_inverted_index.Statistical | 89 |
| abstract_inverted_index.adolescents | 48 |
| abstract_inverted_index.assessments | 139 |
| abstract_inverted_index.disability, | 161 |
| abstract_inverted_index.generalized | 112 |
| abstract_inverted_index.long‐term | 160 |
| abstract_inverted_index.non‐motor | 40 |
| abstract_inverted_index.populations | 29 |
| abstract_inverted_index.potentially | 162 |
| abstract_inverted_index.stimulation | 4 |
| abstract_inverted_index.Neurological | 102 |
| abstract_inverted_index.improvements | 106 |
| abstract_inverted_index.intervention | 44 |
| abstract_inverted_index.professional | 167 |
| abstract_inverted_index.‐myoclonus | 157 |
| abstract_inverted_index.International | 183 |
| abstract_inverted_index.quality‐of‐life | 81, 138 |
| abstract_inverted_index.Burke‐Fahn‐Marsden, | 71 |
| cited_by_percentile_year | |
| corresponding_author_ids | https://openalex.org/A5032398456 |
| countries_distinct_count | 3 |
| institutions_distinct_count | 24 |
| corresponding_institution_ids | https://openalex.org/I123044942, https://openalex.org/I4210102407, https://openalex.org/I4210111366, https://openalex.org/I4210127641, https://openalex.org/I4210156829 |
| citation_normalized_percentile.value | 0.44110587 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |