{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:41:54Z","timestamp":1781613714377,"version":"3.54.5"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T00:00:00Z","timestamp":1759190400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T00:00:00Z","timestamp":1759190400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Bilateral focal hand dystonia is an almost pathognomonic sign of Partington syndrome, frequently accompanied by intellectual disability and oromotor dyspraxia. However, a few studies have focused on the treatment of this focal dystonia, making patient management uncertain.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Cases<\/jats:title>\n                    <jats:p>\n                      We present 2 cases of Partington syndrome featuring Aristaless\u2010related homeobox (ARX) gene mutations, hand dystonia, and other clinical signs. Various drug treatments were attempted, including levodopa (\n                      <jats:sc>l<\/jats:sc>\n                      \u2010dopa), trihexyphenidyl, tetrabenazine, and benzodiazepines, as well as botulinum toxin. Additionally, a blinded dystonia protocol was used to assess\n                      <jats:sc>l<\/jats:sc>\n                      \u2010dopa's efficacy in 1 patient, which confirmed only mild benefit.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Literature review<\/jats:title>\n                    <jats:p>\n                      Through a systematic review of the literature, we found that only\n                      <jats:sc>l<\/jats:sc>\n                      \u2010dopa and baclofen might result in mild improvement, whereas propranolol, gabapentin, and haloperidol were reported as ineffective. The descriptions in those studies were, however, imprecise and the improvement rather mild, hindering definitive conclusions about their effectiveness.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Treatment options in Partington syndrome\u2013associated dystonia remain elusive. Further research and additional case studies are needed to fully characterize the clinical features of Partington syndrome and to identify effective treatments.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70356","type":"journal-article","created":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T10:20:17Z","timestamp":1759227617000},"page":"533-540","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Managing Dystonia in Partington Syndrome"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-5269-6431","authenticated-orcid":false,"given":"Emilie","family":"Pichon","sequence":"first","affiliation":[{"name":"Service of Neurology, Department of Clinical Neurosciences Lausanne University Hospital (CHUV) and University of Lausanne (UNIL)  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurea","family":"Alioth","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Geneva and University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3789-5827","authenticated-orcid":false,"given":"Sabina","family":"Catalano Chiuv\u00e9","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Geneva and University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3011-4792","authenticated-orcid":false,"given":"Andr\u00e9","family":"Zacharia","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Geneva and University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Ruiz\u2010Lopez","sequence":"additional","affiliation":[{"name":"Movement Disorder Neurology University Hospitals Cruces  Bilbao Spain"},{"name":"Neurodegenerative Diseases Group Biocruces Bizkaia Health Research Institute  Barakaldo Bizkaia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David P.","family":"Breen","sequence":"additional","affiliation":[{"name":"Anne Rowling Regenerative Neurology Clinic, Institute for Neuroscience and Cardiovascular Research University of Edinburgh  Edinburgh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Zangas\u2010Gehri","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Subspecialities service, Department of Pediatrics University of Geneva and University Hospitals of Geneva  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florent","family":"Draye","sequence":"additional","affiliation":[{"name":"Institute of Neuroinformatics ETH Zurich and University of Zurich  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurore","family":"Curie","sequence":"additional","affiliation":[{"name":"Reference Center for Intellectual Disability from Rare Causes, Child Neurology Department, Woman Mother and Child Hospital  Hospices Civils de Lyon, F\u201069500 Bron France"},{"name":"Lyon Neuroscience Research Centre  CNRS UMR5292, INSERM U1028, F\u201069500 Bron France"},{"name":"Lyon University  F\u201069008 Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duncan","family":"Wilson","sequence":"additional","affiliation":[{"name":"Edmond J. 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