{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T06:40:16Z","timestamp":1789195216833,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,1,10]],"date-time":"2021-01-10T00:00:00Z","timestamp":1610236800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["5K23NS091511\u201006"],"award-info":[{"award-number":["5K23NS091511\u201006"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS104010"],"award-info":[{"award-number":["R01NS104010"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>We aim to describe 12\u2010mo functional and motor outcome performance in a cohort of participants with congenital myotonic dystrophy (CDM).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>CDM participants performed the 6 Minute Walk Test (6MWT), 10 Meter Run, 4 Stair Climb, Grip Strength, and Lip Force at baseline and 12\u2010mo visits. Parents completed the Vineland Adaptive Behavior Scale.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Forty\u2010seven participants, aged 0 to 13\u2009y old, with CDM were enrolled. 6MWT, 10 Meter Run, and 4 Stair Climb were completed in &gt;85% of eligible participants. The only significant difference between mean baseline and 12\u2010mo performance was an improvement in 6MWT in children 3\u20106 y old (<jats:italic>P<\/jats:italic> = .008). This age group also had the largest mean % improvement in performance in all other timed functional testing. In children &gt;7 y, the slope of change on timed functional tests decreased or plateaued, with further reductions in performance in children \u226510 y. Participants with CTG repeat lengths &lt;500 did not perform differently than those with repeat lengths &gt;1000.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The 6MWT, 10 Meter Run, and 4 Stair Climb were the most feasible measures. Our findings are consistent with the clinical profile and prior cross\u2010sectional data, helping to establish reasonable expectations of functional trajectories in this population as well as identifying points in which therapeutic interventions may be best studied. Further study of outcomes in children &gt;10 y old and &lt;3 y is warranted, but this new information will assist planning of clinical trials in the CDM population.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27147","type":"journal-article","created":{"date-parts":[[2020,12,20]],"date-time":"2020-12-20T15:56:05Z","timestamp":1608479765000},"page":"384-391","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["<scp>12\u2010Month<\/scp> progression of motor and functional outcomes in congenital myotonic dystrophy"],"prefix":"10.1002","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4365-2298","authenticated-orcid":false,"given":"Kellen H.","family":"Quigg","sequence":"first","affiliation":[{"name":"Department of Neurology Virginia Commonwealth University Health  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiera N.","family":"Berggren","sequence":"additional","affiliation":[{"name":"Department of Neurology Virginia Commonwealth University Health  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"McIntyre","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology University of Utah  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kameron","family":"Bates","sequence":"additional","affiliation":[{"name":"Department of Neurology Virginia Commonwealth University Health  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Salmin","sequence":"additional","affiliation":[{"name":"The NEuroMuscular Omnicentre (NEMO) Clinical Center  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacopo L.","family":"Casiraghi","sequence":"additional","affiliation":[{"name":"The NEuroMuscular Omnicentre (NEMO) Clinical Center  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"D\u02bcAmico","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Bambino Ges\u00f9 Children\u02bcs Hospital, Unit of Neuromuscular and Neurodegenerative Disorders  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guja","family":"Astrea","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience Scientific Institute for Research Hospitalization and Health Care (IRCCS) Stella Maris  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Ricci","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Child and Adolescent Neuropsychiatry Regina Margherita Children\u02bcs Hospital  Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marnee J.","family":"McKay","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health, Sydney School of Health Sciences The University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer N.","family":"Baldwin","sequence":"additional","affiliation":[{"name":"Priority Research Centre for Physical Activity and Nutrition The University of Newcastle  Callaghan New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Burns","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health, Sydney School of Health Sciences The University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig","family":"Campbell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics London Children\u02bcs Hospital, University of Western Ontario  London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria A.","family":"Sansone","sequence":"additional","affiliation":[{"name":"The NEuroMuscular Omnicentre (NEMO) Clinical Center  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3917-4257","authenticated-orcid":false,"given":"Nicholas E.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Neurology Virginia Commonwealth University Health  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,1,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1546325"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90154-5"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1546326"},{"issue":"6","key":"e_1_2_10_5_1","first-page":"1084","article-title":"Genetic 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