{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:08:02Z","timestamp":1791896882025,"version":"4.3.4"},"reference-count":23,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,10,10]],"date-time":"2020-10-10T00:00:00Z","timestamp":1602288000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["MDA602235"],"award-info":[{"award-number":["MDA602235"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U54HD090255"],"award-info":[{"award-number":["U54HD090255"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To describe clinical features and disease progression of Selenoprotein N\u2010related myopathy in a large multicenter cohort of patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Cross\u2010sectional multicenter data analysis of 60 patients (53 families) with Selenoprotein N\u2010related myopathy and single\u2010center retrospective longitudinal analysis of 25 patients (21 families) over a median period of 5.3\u00a0years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The majority of patients (46\/60, 77%) presented before age 2\u00a0years with hypotonia, poor head\/neck control, and developmental delay. At last assessment (median age 14\u00a0years; range 2.5 to 36\u00a0years), 10\/60 patients had minimal or no ambulation. Ventilatory support was initiated in 50\/60 patients at a mean Forced Vital Capacity (FVC) of 38% and at a median age of 13\u00a0years. Forty\u2010five\/60 patients developed scoliosis (at median age 12.1\u00a0years) and 18 had scoliosis surgery at a median age of 13.6\u00a0years. Five children needed nasogastric feeds and\/or gastrostomy. Longitudinal data analysis on 25 patients showed progressive decline of Hammersmith functional motor scores (estimated annual change \u22120.55 point), time to walk 10 meter, time standing from sitting, and from lying. Sixteen patients had weights\u00a0&lt;\u00a02nd centile. The estimated change in FVC % per year was \u22122.04, with a 95% CI (\u22122.94, \u22121.14).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This comprehensive analysis of patients with Selenoprotein N\u2010related myopathy further describes the clinical course of this rare condition. The observed functional motor and respiratory data provide evidence of the slow decline patients experience over time which is useful when considering therapeutic intervention.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51218","type":"journal-article","created":{"date-parts":[[2020,10,10]],"date-time":"2020-10-10T09:28:01Z","timestamp":1602322081000},"page":"2288-2296","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Selenoprotein N\u2010related myopathy: a retrospective natural history study to guide clinical trials"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0950-3101","authenticated-orcid":false,"given":"Arpana","family":"Silwal","sequence":"first","affiliation":[{"name":"The Dubowitz Neuromuscular Centre Developmental Neuroscience Program UCL Great Ormond Street Institute of Child Health Great Ormond Street Hospital London 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