{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T12:12:20Z","timestamp":1790770340999,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,6,20]],"date-time":"2022-06-20T00:00:00Z","timestamp":1655683200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI 18\/01319"],"award-info":[{"award-number":["PI 18\/01319"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>To evaluate early dystonic features in children and adolescents with <jats:italic>SGCE<\/jats:italic>\u2010myoclonus\u2013dystonia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>In this cross\u2010sectional study, 49 patients (26 females and 23 males) with <jats:italic>SGCE<\/jats:italic>\u2010myoclonus\u2013dystonia (aged 15y 2mo, SD\u200912y) with childhood\u2010onset (2y 10mo,\u00a0SD\u20091y 10mo) dystonia were examined using a standardized video recorded protocol. Dystonia was rated using the Writer's Cramp and Gait Dystonia Rating Scales. Disability and impairment for handwriting and walking were also rated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Dystonia was present at rest (<jats:italic>n<\/jats:italic>=1), posture (<jats:italic>n<\/jats:italic>=12), and during specific motor tasks (<jats:italic>n<\/jats:italic>=45) such as writing (<jats:italic>n<\/jats:italic>=35), walking (<jats:italic>n<\/jats:italic>=23), and running (<jats:italic>n<\/jats:italic>=20). Most children reported disability while performing these tasks. Early dystonic patterns were identified for writer's cramp and gait dystonia, the latter named the \u2018circular shaking leg\u2019, \u2018dragging leg\u2019, and \u2018hobby\u2010horse gait\u2019 patterns. Sensory tricks were used by five and eight children to improve dystonia and myoclonus during writing and walking respectively. The rating scales accurately measured the severity of action dystonia and correlated with self\u2010reported disability.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Children with <jats:italic>SGCE<\/jats:italic>\u2010myoclonus\u2013dystonia show recognizable dystonic patterns and sensory tricks that may lead to an early diagnosis and timely therapeutic approach. Isolated writer's cramp is a key feature in childhood and should prompt <jats:italic>SCGE<\/jats:italic> analysis. The proposed action dystonia scales could be used to monitor disease course and response to treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>What this paper adds<\/jats:title><jats:p>\n<jats:list list-type=\"bullet\">\n\n<jats:list-item><jats:p>Most children with <jats:italic>SGCE<\/jats:italic>\u2010myoclonus\u2013dystonia got writer's cramp and had walking and running dystonia.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Writer's cramp was a key feature and should prompt <jats:italic>SGCE<\/jats:italic> genetic investigation.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>\u2018Circular shaking leg\u2019, \u2018dragging leg\u2019, and \u2018hobby\u2010horse gait\u2019 were recognized as early gait patterns.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Children used sensory tricks to improve myoclonus and dystonia, suggesting common pathophysiological mechanisms.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Action dystonia rating scales are valid tools to assess severity in children.<\/jats:p><\/jats:list-item>\n<\/jats:list>\n<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.15298","type":"journal-article","created":{"date-parts":[[2022,6,20]],"date-time":"2022-06-20T14:15:16Z","timestamp":1655734516000},"page":"207-214","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Early recognition of <i>SGCE<\/i>\u2010myoclonus\u2013dystonia in children"],"prefix":"10.1111","volume":"65","author":[{"given":"Marta","family":"Correa\u2010Vela","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology Vall d'Hebron Hospital Universitari, Pediatric"},{"name":"Departament de Pediatria Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joao","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Centro de Desenvolvimento da Crian\u00e7a Torrado da Silva Hospital Garcia de Orta. 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