{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:02:01Z","timestamp":1790834521104,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:00:00Z","timestamp":1790726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:00:00Z","timestamp":1790726400000},"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"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Dystonia with anarthria and\/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing recognition and facilitating targeted diagnostic workup.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively reviewed patients with dystonia and anarthria\/aphonia due to established genetic causes across the lifespan at The Hospital for Sick Children and Toronto Western Hospital. Demographic, clinical, genetic, and neuroradiological data were reviewed. Cases were categorized based on the age of onset of neurological symptoms: neonatal (0\u20134\u2009weeks), infantile (4\u2009weeks \u2013 1\u2009year), early childhood (1\u20138\u2009years), late childhood\/adolescence (8\u201318\u2009years) and adulthood (&gt;18\u2009years).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Fifty\u2010four patients were included, with a mean age of 15.8\u2009years at last assessment (range: 17\u2009months\u201353\u2009years). We identified 39 distinct genetic etiologies including channelopathies, G\u2010protein\u2010related disorders, developmental and epileptic encephalopathies and metabolic disorders. Most (92%) presented before the age of 8\u2009years, with symptom onset in infancy (37%), early childhood (32%) and neonatal period (24%); only four presented later. Early\u2010onset cases demonstrated more severe phenotypes, including global developmental delay (100% of neonatal cases), seizures (54% of neonatal cases) and absent speech acquisition. Therapeutic interventions included deep brain stimulation in 12 patients, targeted gene or disease\u2010specific therapies were available for three patients in our cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Dystonia with anarthria\/aphonia is genetically heterogeneous and predominantly early\u2010onset, with severe neurodevelopmental impairment. Early genetic diagnosis is essential to guide management as targeted therapies emerge.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70841","type":"journal-article","created":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:50:19Z","timestamp":1790833819000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Etiologies of Dystonia with Anarthria\/Aphonia"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-0592-0572","authenticated-orcid":false,"given":"Anika","family":"M\u00e9n\u00e9trey","sequence":"first","affiliation":[{"name":"Division of Neurology, Department of Pediatrics The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Pediatrics, Faculty of Medicine University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eriberto","family":"Rayco","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8375-5262","authenticated-orcid":false,"given":"Maziar Emamikhah","family":"Abarghouei","sequence":"additional","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Clinic Toronto Western Hospital, UHN  Toronto Ontario Canada"},{"name":"Division of Neurology University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-7568-1645","authenticated-orcid":false,"given":"Susan H.","family":"Fox","sequence":"additional","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Clinic Toronto Western Hospital, UHN  Toronto Ontario Canada"},{"name":"Division of Neurology University of Toronto  Toronto Ontario Canada"},{"name":"Division of Neurology, Krembil Brain Institute Toronto Western Hospital  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1229-3667","authenticated-orcid":false,"given":"Anthony E.","family":"Lang","sequence":"additional","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Clinic Toronto Western Hospital, UHN  Toronto Ontario Canada"},{"name":"Division of Neurology University of Toronto  Toronto Ontario Canada"},{"name":"Division of Neurology, Krembil Brain Institute Toronto Western Hospital  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9068-8184","authenticated-orcid":false,"given":"George M.","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"Division of Neurosurgery The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Division of Neurosurgery, Department of Surgery University of Toronto  Ontario Canada"},{"name":"Program in Neuroscience and Mental Health The Hospital for Sick Children Research Institute  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0007-9591","authenticated-orcid":false,"given":"Carolina","family":"Gorodetsky","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Pediatrics, Faculty of Medicine University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8077-8530","authenticated-orcid":false,"given":"Christos","family":"Ganos","sequence":"additional","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Clinic Toronto Western Hospital, UHN  Toronto Ontario Canada"},{"name":"Division of Neurology University of Toronto  Toronto Ontario Canada"},{"name":"Division of Neurology, Krembil Brain Institute Toronto Western Hospital  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,30]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/MDS.30220"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.3233\/JPN-2010-0362"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.PARKRELDIS.2016.01.022"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ACN3.70100"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/MDS.30208"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/S41582-023-00909-9"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/MDC3.13702"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-24524-8"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-8587(19)30155-X"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/MDC3.70135;SUBPAGE:STRING:FULL"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(05)80030-3"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/DYST.2024.12125"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/CGE.13657"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2024.107010"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.PEDIATRNEUROL.2021.09.011"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/S41591-025-03784-7"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.GIMO.2024.101856"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-025-03919-w"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200229\/ASSET\/91AB72B2\u2010CB36\u201046B8\u20108551\u2010C5A73437351F\/ASSETS\/IMAGES\/LARGE\/NXG.0000000000200229F1.JPG"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.70098"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.70841","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mdc3.70841","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.70841","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:50:20Z","timestamp":1790833820000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.70841"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,30]]},"references-count":20,"alternative-id":["10.1002\/mdc3.70841"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.70841","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,30]]},"assertion":[{"value":"2026-05-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"mdc3.70841"}}