{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T22:12:29Z","timestamp":1791497549871,"version":"4.3.4"},"reference-count":10,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T00:00:00Z","timestamp":1733184000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Institute of Mother and Child","award":["000"],"award-info":[{"award-number":["000"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: The accessibility of effective SMA (spinal muscular atrophy) treatment is resulting in a growing number of affected women reaching fertility age and deciding to conceive. Pregnancy in women with SMA is associated with a high risk of rapid progression of symptoms, including increased weakness, growing paresis, or even onset of respiratory failure requiring ventilation support. Muscle weakness frequently leads to disability, which in a high percentage is irreversible. Pre-term labor and delivery by cesarean section are the most commonly described cases in the literature. Methods: This paper aims to describe the first case in Europe, a 21-year-old patient treated with Nusinersen under the drug program during the third trimester of pregnancy. Despite the significant progression of the disease during pregnancy, the patient did not lose gait function. The pregnancy was ended at 33Hbd, and the baby\u2019s condition was unremarkable. In addition to clinical data, this paper also discusses the economic aspects. Conclusions: Thanks to the rapid initiation of treatment, the patient did not lose her ability to walk, and a significant improvement in motor function was observed after the postpartum period. No side effects or negative effects on the fetus were observed.<\/jats:p>","DOI":"10.3390\/jcm13237366","type":"journal-article","created":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T11:48:56Z","timestamp":1733226536000},"page":"7366","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1329-846X","authenticated-orcid":false,"given":"El\u017cbieta","family":"Stawicka","sequence":"first","affiliation":[{"name":"Clinic of Paediatric Neurology, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-0655-5057","authenticated-orcid":false,"given":"Urszula","family":"Skar\u017cy\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Organization and Accounts, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agata","family":"Lipiec","sequence":"additional","affiliation":[{"name":"Clinic of Paediatric Neurology, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6970-5303","authenticated-orcid":false,"given":"Natalia","family":"Mazanowska","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Stankiewicz","sequence":"additional","affiliation":[{"name":"Clinic of Anaesthesiology and Intensive Care, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Gos","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milena","family":"Wyszczelska-Nami\u0119ta","sequence":"additional","affiliation":[{"name":"Clinic of Paediatric Neurology, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,12,3]]},"reference":[{"key":"ref_1","unstructured":"Burr, P., and Reddivari, A.K.R. (2024). Spinal Muscle Atrophy. StatPearls [Internet], StatPearls Publishing."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Nishio, H., Niba, E.T.E., Saito, T., Okamoto, K., Takeshima, Y., and Awano, H. (2023). Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms241511939"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.jns.2018.03.001","article-title":"Pregnancy outcomes in women with spinal muscular atrophy: A review","volume":"388","author":"Abati","year":"2018","journal-title":"J. Neurol. Sci."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1007\/BF00839207","article-title":"Pregnancy and spinal muscular atrophy","volume":"239","author":"Zerres","year":"1992","journal-title":"J. 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Case Rep."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"bcr1020103402","DOI":"10.1136\/bcr.10.2010.3402","article-title":"Management of a pregnancy complicated by type III spinal muscular atrophy","volume":"2011","author":"Howarth","year":"2011","journal-title":"BMJ Case Rep."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/23\/7366\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T16:45:50Z","timestamp":1760114750000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/23\/7366"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,3]]},"references-count":10,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["jcm13237366"],"URL":"https:\/\/doi.org\/10.3390\/jcm13237366","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,3]]}}}