{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T16:37:36Z","timestamp":1783528656407,"version":"3.55.0"},"reference-count":33,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T00:00:00Z","timestamp":1712102400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec><jats:title>Background\/objective<\/jats:title><jats:p>Insufficiency of respiratory muscles is the most important reason for mortality in the natural history of SMA. Thus, improvement or stabilization of respiratory function by disease-modifying therapies (DMT) is a very important issue.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We examined respiratory function using forced vital capacity (FVC) in 42 adult SMA patients (2 SMA type 1, 15 SMA type 2, 24 SMA type 3, 1 SMA type 4, median age 37\u2009years, range 17\u201361\u2009years) treated with nusinersen for a median of 22.1\u2009months (range 2.1 to 46.7\u2009months). Change in FVC was assessed using mixed effects linear regression models.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Baseline FVC differed significantly between SMA type 1 (4.0, 8.0%), 2 (median 22.0%, IQR 18.0\u201344.0), 3 (median 81.0%, IQR 67.0\u201390.8) and, respectively, type 4 (84.0%) patients reflecting the heterogeneity of respiratory impairment based on the SMA type in adulthood (<jats:italic>p<\/jats:italic>\u2009&amp;lt;\u20090.0001). FVC remained stable during follow-up (mean \u22120.047, 95% CI \u22120.115 to 0.020, <jats:italic>p<\/jats:italic>\u2009=\u20090.17); however, subgroup analysis showed an increase in FVC of type 2 patients (mean 0.144, 95% CI 0.086 to 0.202, <jats:italic>p<\/jats:italic>\u2009&amp;lt;\u20090.0001) and a decrease in FVC of type 3\/4 patients (\u22120.142, 95% CI \u22120.239 to \u22120.044, <jats:italic>p<\/jats:italic>\u2009=\u20090.005).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The observed improvement in FVC in patients with SMA type 2 can be seen as a therapeutic response differing from the progressive decline typically seen in the spontaneous course. For SMA type 3\/4 patients approaching normal spirometry at baseline, FVC may only be of limited use as an outcome parameter due to ceiling effects.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fneur.2024.1372674","type":"journal-article","created":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T04:48:02Z","timestamp":1712119682000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Respiratory function in adult patients with spinal muscular atrophy treated with nusinersen \u2013 a monocenter observational study"],"prefix":"10.3389","volume":"15","author":[{"given":"Claudia Diana","family":"Wurster","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeljko","family":"Uzelac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens","family":"Dreyhaupt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"Schuster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Dorst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert Christian","family":"Ludolph","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kurt","family":"Wollinsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,4,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1038\/344767a0","article-title":"Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q","volume":"344","author":"Melki","year":"1990","journal-title":"Nature"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1016\/S0960-8966(06)80015-5","article-title":"International SMA 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