{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T13:55:01Z","timestamp":1793368501305,"version":"4.5.0"},"reference-count":27,"publisher":"Georg Thieme Verlag KG","issue":"12","license":[{"start":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T00:00:00Z","timestamp":1734652800000},"content-version":"vor","delay-in-days":19,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Novartis Bioci\u00eancias and Roche Pharmaceuticals"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the SMN1 gene.<\/jats:p><jats:p>\n          Objective\u2003To describe the key demographic, clinical and genetic characteristics, as well as natural history data of patients with SMA-5q.<\/jats:p><jats:p>\n          Methods\u2003Up to January 2022, 706 patients with confirmed genetic diagnosis of SMA-5q, or their parents, completed a self-reported questionnaire on natural history, genetic characteristics, drug treatments, and multidisciplinary care.<\/jats:p><jats:p>\n          Results\u2003Most patients had type 1 SMA-5q (42%); with 33% having type 2, and 23% type 3. There were 667 patients (94.4%) with a homozygous SMN1-exon 7 deletion. Of the total, 131 (18.6%) patients had a previous family history of the disease, and the familial recurrence rate was higher in type 3 (25.6%). Type 1 patients had a mean age of 3 months at the onset of symptoms and a delay of more than 3 months until genetic diagnosis. The median survival of patients with type 1 without invasive ventilation was 27 months. Before 2018, the median age of use of invasive ventilation was 16 months and, after, most patients (71%) were not submitted to invasive ventilation. About 50% of patients with type 3 lost their walking ability by 37 years of age. Further, 384 (54.4%) patients had access to disease-modifying therapy, and 62.3% of type 1 patients were in treatment, compared with only 47.2% of type 2 and 31.9% of type 3 patients.<\/jats:p><jats:p>\n          Conclusion\u2003There is still a substantial diagnostic delay, especially in those patients with types 2 and 3 SMA-5q. However, the present study demonstrated prolonged survival, especially in type 1 patients.<\/jats:p>","DOI":"10.1055\/s-0044-1792096","type":"journal-article","created":{"date-parts":[[2024,12,21]],"date-time":"2024-12-21T00:02:09Z","timestamp":1734739329000},"page":"001-009","source":"Crossref","is-referenced-by-count":2,"title":["A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care"],"prefix":"10.1055","volume":"82","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7520-3353","authenticated-orcid":false,"given":"Rodrigo Holanda","family":"Mendon\u00e7a","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Departamento de Neurologia, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-1817-8021","authenticated-orcid":false,"given":"Juliane Suellen Arndt de","family":"Godoi","sequence":"additional","affiliation":[{"name":"Instituto Nacional da Atrofia Muscular Espinhal, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4991-6760","authenticated-orcid":false,"given":"Edmar","family":"Zanoteli","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Faculdade de Medicina, Departamento de Neurologia, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2024,12,20]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0960-8966(06)80015-5","article-title":"International SMA consortium meeting. 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