{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T15:50:48Z","timestamp":1792511448363,"version":"4.5.0"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,1,8]],"date-time":"2024-01-08T00:00:00Z","timestamp":1704672000000},"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\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","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":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>In preparation for clinical trials, it is important to better understand how disease burden changes over time in facioscapulohumeral muscular dystrophy (FSHD) and to assess the capability of select metrics to detect these changes. This study aims to evaluate FSHD disease progression over 1\u2009year and to examine the sensitivity of several outcome measures in detecting changes during this interval.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted a 12\u2010month prospective observational study of 41 participants with FSHD. Participants were evaluated at baseline, 6\u2009months, and 12\u2009months with serial strength testing (manual muscle testing or MMT and maximum voluntary isometric contraction testing or MVICT), functional testing (FSHD\u2010Composite Outcome Measure or FSHD\u2010COM, FSHD Clinical Severity Score or CSS, and FSHD Evaluation Score or FES), sleep and fatigue assessments, lean body mass measurements, respiratory testing, and the FSHD\u2010Health Index patient\u2010reported outcome. Changes in these outcome measures were assessed over the 12\u2010month period. Associations between changes in outcome measures and both age and sex were also examined.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In a 12\u2010month period, FSHD participant function remained largely stable with a mild worsening of strength, measured by MMT and standardized MVICT scores, and a mild loss in lean body mass.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>The abilities and disease burden of adults with FSHD are largely static over a 12\u2010month period with participants demonstrating a mild average reduction in some measures of strength. Selection of patients, outcome measures, and trial duration should be carefully considered during the design and implementation of future clinical studies involving FSHD patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.28031","type":"journal-article","created":{"date-parts":[[2024,1,8]],"date-time":"2024-01-08T13:06:37Z","timestamp":1704719197000},"page":"362-367","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (<scp>FSHD<\/scp>)"],"prefix":"10.1002","volume":"69","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9533-7113","authenticated-orcid":false,"given":"Anika","family":"Varma","sequence":"first","affiliation":[{"name":"Center for Health\u2009+\u2009Technology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael S.","family":"Todinca","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katy","family":"Eichinger","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Heininger","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuran","family":"Dilek","sequence":"additional","affiliation":[{"name":"Center for Health\u2009+\u2009Technology University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Martens","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabi","family":"Tawil","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0790-5315","authenticated-orcid":false,"given":"Jeffrey","family":"Statland","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Kansas Medical Center  Kansas City Kansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John T.","family":"Kissel","sequence":"additional","affiliation":[{"name":"Department of Neurology Ohio State University Wexner Medical Center  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"McDermott","sequence":"additional","affiliation":[{"name":"Center for Health\u2009+\u2009Technology University of Rochester  Rochester New York USA"},{"name":"Department of Neurology University of Rochester Medical Center  Rochester New York USA"},{"name":"Department of Biostatistics and Computational Biology University of Rochester Medical Center  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chad","family":"Heatwole","sequence":"additional","affiliation":[{"name":"Center for Health\u2009+\u2009Technology University of Rochester  Rochester New York USA"},{"name":"Department of Neurology University of Rochester Medical Center  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,1,8]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010011\u20101100\u2010z"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2009.01158.x"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000797"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0960\u20108966(01)00201\u20102"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-140045"},{"key":"e_1_2_13_7_1","unstructured":"PrestonMK TawilR WangLH.Facioscapulohumeral muscular dystrophy. In:AdamMP ArdingerHH PagonRA et al. eds.GeneReviews\u00ae University of Washington Seattle;1993Accessed April 17 2022.http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1443\/"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978\u20100\u201008\u2010045031\u20105.00013\u2010X"},{"key":"e_1_2_13_9_1","unstructured":"Neurology National Registry for DM and FSHD.National registry for myotonic dystrophy (DM) & facioscapulohumeral dystrophy (FSHD). Accessed April 16 2022."},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.48.1.38"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23949"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lungcan.2017.09.011"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2015.63.0830"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2022.9265"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102011\u2010100101"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.28031","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,8]],"date-time":"2024-02-08T10:46:30Z","timestamp":1707389190000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.28031"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,8]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1002\/mus.28031"],"URL":"https:\/\/doi.org\/10.1002\/mus.28031","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,8]]},"assertion":[{"value":"2022-12-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}