{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T23:55:51Z","timestamp":1782258951483,"version":"3.54.5"},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,3,15]],"date-time":"2025-03-15T00:00:00Z","timestamp":1741996800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003030","name":"Ag\u00e8ncia de Gesti\u00f3 d'Ajuts Universitaris i de Recerca","doi-asserted-by":"publisher","award":["2022 FI_B 00996"],"award-info":[{"award-number":["2022 FI_B 00996"]}],"id":[{"id":"10.13039\/501100003030","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["FORT23\/00034"],"award-info":[{"award-number":["FORT23\/00034"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI21\/00248"],"award-info":[{"award-number":["PI21\/00248"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI24\/01083"],"award-info":[{"award-number":["PI24\/01083"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Myoclonus\u2010dystonia syndrome (MDS) is a genetic movement disorder with childhood\u2010onset, most frequently caused by <jats:italic>SGCE<\/jats:italic> defects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To evaluate the diagnostic and treatment strategies in MDS used by experts from the European Reference Network for rare neurological diseases (ERN\u2010RND), and to assess the diagnosis and management experience in patients with MDS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two different questionnaires were distributed: one among neurologists from ERN\u2010RND, and another among patients and families with <jats:italic>SGCE<\/jats:italic>\u2010related MDS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010nine adult and child neurologists from 14 countries, and 84 patients and caregivers from 12 countries, replied to the surveys. All the patients included in the analysis had <jats:italic>SGCE<\/jats:italic>\u2010related MDS. The mean age was 30.8\u2009years (SD 19,9; range 3\u201375). Sixty\u2010nine percent of patients were diagnosed in childhood and 70% had a positive family history. Most participants suffered from predominant upper body myoclonus and focal\/segmental dystonia, hindering daily activities in 80% of patients, such as handwriting, drinking, feeding, walking and speech. Botulinum toxin and DBS were effective options for managing movement disorders compared to pharmacological treatments. However, neither of these therapies were applied optimally. We found deficiencies in recognition and management of academic difficulties, and a high unemployment rate. Despite all but one patient reported psychiatric symptoms such as anxiety, depression or OCD, there was a lack of formal psychiatric evaluations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>SGCE<\/jats:italic>\u2010MDS is a well\u2010known neurological disorder among movement disorder specialists in Europe. Offering a multidisciplinary approach that tackles both movement disorders and neuropsychiatric comorbidities could enhance the diagnosis and treatment of patients with <jats:italic>SGCE<\/jats:italic>\u2010MDS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.70028","type":"journal-article","created":{"date-parts":[[2025,3,15]],"date-time":"2025-03-15T05:50:28Z","timestamp":1742017828000},"page":"957-968","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1535-4835","authenticated-orcid":false,"given":"Mar\u00eda I.","family":"Vanegas","sequence":"first","affiliation":[{"name":"Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas\u2019 NHS Foundation Trust  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5762-4023","authenticated-orcid":false,"given":"Anna","family":"Marc\u00e9\u2010Grau","sequence":"additional","affiliation":[{"name":"Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2922-605X","authenticated-orcid":false,"given":"Ana","family":"Cazurro\u2010Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute  Barcelona Spain"},{"name":"Department of Pediatrics Universitat Aut\u00f2noma de Barcelona  Barcelona 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of Systems Motor Science, CBBM, University of L\u00fcbeck  L\u00fcbeck Germany"},{"name":"Center of Rare Diseases, University Medical Center Schleswig\u2010Holstein  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5783-571X","authenticated-orcid":false,"given":"Marina A.J.","family":"Tijssen","sequence":"additional","affiliation":[{"name":"Department of Neurology University Medical Center Groningen, University of Groningen  Groningen The Netherlands"},{"name":"Department of Neurology Autonomous University of Barcelona, Hospital Universitari Vall d'Hebron  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0983-2052","authenticated-orcid":false,"given":"Victoria","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Department of Neurology Autonomous University of Barcelona, Hospital Universitari Vall d'Hebron  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8865-2438","authenticated-orcid":false,"given":"Luc\u00eda Dougherty\u2010de","family":"Miguel","sequence":"additional","affiliation":[{"name":"Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute  Barcelona Spain"},{"name":"Department of Pediatric Neurology Vall d'Hebron University Hospital  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Martin","sequence":"additional","affiliation":[{"name":"Spanish Dystonia Association ALUDME Dystonia  Vilareal Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Benson","sequence":"additional","affiliation":[{"name":"Dystonia Europe  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carola","family":"Reinhard","sequence":"additional","affiliation":[{"name":"Institute for Medical Genetics and 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