{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T15:01:20Z","timestamp":1780930880033,"version":"3.54.1"},"reference-count":34,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,2,22]],"date-time":"2026-02-22T00:00:00Z","timestamp":1771718400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,2,22]],"date-time":"2026-02-22T00:00:00Z","timestamp":1771718400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Spinal muscular atrophy (SMA) type 1 is a severe autosomal recessive neuromuscular disorder caused by loss\u2010of\u2010function variants in the\n                    <jats:italic>SMN1<\/jats:italic>\n                    gene, typically leading to death within the first two years without intervention. Long\u2010term survival is uncommon, especially in patients with the most severe genotypes, such as those carrying only one\n                    <jats:italic>SMN2<\/jats:italic>\n                    copy, and is rarely reported in resource\u2010limited settings. We describe a 23\u2010year\u2010old man from northeastern Brazil with SMA type 1 who has been fully ventilator\u2010dependent since infancy. Early symptoms included hypotonia, weak cry, and paradoxical breathing, with acute respiratory failure at three months requiring tracheostomy and permanent invasive ventilation. Initial multiplex ligation\u2010dependent probe amplification (MLPA) detected only a monoallelic\n                    <jats:italic>SMN1<\/jats:italic>\n                    deletion, delaying genetic confirmation for over two decades. Whole\u2010exome sequencing later revealed compound heterozygosity for a rare pathogenic\n                    <jats:italic>SMN1<\/jats:italic>\n                    variant (c.770_780dup; p.Gly261Leufs*) and a deletion of the remaining allele, with only one\n                    <jats:italic>SMN2<\/jats:italic>\n                    copy. Despite living in a resource\u2010limited setting, the patient's home was adapted for long\u2010term intensive care, with optimized ventilator settings, daily mechanically assisted cough, and trained caregivers. Over 23\u2009years, he experienced only five respiratory infections, none requiring prolonged hospitalization. Neuroimaging in adulthood demonstrated bilateral global cortical atrophy and diffuse calvarial hyperostosis. Since starting nusinersen therapy, his clinical condition has remained stable without respiratory decline. This case demonstrates that, with individualized and sustained multidisciplinary care, adults with SMA type 1 and the most severe genotype can achieve exceptional long\u2010term survival and stability, even in resource\u2010limited environments. This report underscores the importance of advanced genetic testing when initial results are inconclusive and shows that excellence in supportive care can improve outcomes in SMA. We also emphasize the need for psychological management and ethical considerations in the long\u2010term care of individuals with SMA.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.72052","type":"journal-article","created":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T04:02:10Z","timestamp":1771819330000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Adult Survival in\n                    <scp>SMA<\/scp>\n                    Type 1: A 23\u2010Year Journey With Home Ventilation and Multidisciplinary Support"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1213-1687","authenticated-orcid":false,"given":"Antonio E.","family":"Camelo\u2010Filho","sequence":"first","affiliation":[{"name":"Department of Clinical Medicine Universidade Federal Do Cear\u00e1  Cear\u00e1 Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata Monteiro","family":"Jovino","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Universidade Federal Do Cear\u00e1  Cear\u00e1 Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Betina S.","family":"Tomaz","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Universidade Federal Do Cear\u00e1  Cear\u00e1 Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo R.","family":"N\u00f3brega","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Universidade Federal Do Cear\u00e1  Cear\u00e1 Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcelo A.","family":"Holanda","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Universidade Federal Do Cear\u00e1  Cear\u00e1 Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,2,22]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000741"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2024.105270"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0156-7"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.13.2525"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1995.00540290108025"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006050"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009248"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.126.3.831"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000206826"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0000000000001049"},{"issue":"12","key":"e_1_2_14_12_1","first-page":"1","article-title":"Um Cadastro Brasileiro Autorrelatado de Atrofia Muscular Espinhal 5q: Dados de Hist\u00f3ria Natural, Caracter\u00edsticas Gen\u00e9ticas e Cuidados Multidisciplinares","volume":"82","author":"Mendon\u00e7a R. 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