{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T02:51:20Z","timestamp":1791341480778,"version":"4.3.1"},"reference-count":30,"publisher":"SAGE Publications","issue":"11","license":[{"start":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T00:00:00Z","timestamp":1591660800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:p>Spinal muscular atrophy type 0 is the most severe phenotype of the disease, with patients presenting with contractures, weakness, and respiratory failure at birth, and is typically fatal within weeks. We describe the case of a patient with spinal muscular atrophy type 0 who was treated with both nusinersen and onasemnogene abeparvovec. She has made modest motor improvements since treatment initiation with a 30-point improvement in CHOP-INTEND score, and continues to make motor gains at age 13 months without regression of function, although she remains profoundly weak. Although she has had motor improvements, she has also had continued systemic complications from her spinal muscular atrophy, including chronic respiratory failure, dysphagia, congenital heart malformation, digit necrosis, and diffuse macular rash. This case highlights the challenges in treating those with more severe disease phenotypes and raises questions of how some systemic complications may respond to current SMN replacement therapies.<\/jats:p>","DOI":"10.1177\/0883073820928784","type":"journal-article","created":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T11:29:51Z","timestamp":1591702191000},"page":"717-723","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":46,"title":["Clinical Course in a Patient With Spinal Muscular Atrophy Type 0 Treated With Nusinersen and Onasemnogene Abeparvovec"],"prefix":"10.1177","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1556-395X","authenticated-orcid":false,"given":"Susan E.","family":"Matesanz","sequence":"first","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Candace","family":"Curry","sequence":"additional","affiliation":[{"name":"Neurology, Mission Children\u2019s Specialists, Asheville, NC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brianna","family":"Gross","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam I.","family":"Rubin","sequence":"additional","affiliation":[{"name":"Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA"},{"name":"Dermatology, University of Pennsylvania Perelman School of Medicine and Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Linn","sequence":"additional","affiliation":[{"name":"Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA"},{"name":"Department of Pathology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina W.","family":"Yum","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"Division of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"Kichula","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"Division of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2020,6,9]]},"reference":[{"key":"bibr1-0883073820928784","doi-asserted-by":"publisher","DOI":"10.1007\/s11940-019-0568-z"},{"key":"bibr2-0883073820928784","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20473"},{"key":"bibr3-0883073820928784","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.01.003"},{"key":"bibr4-0883073820928784","doi-asserted-by":"publisher","DOI":"10.3233\/JND-160177"},{"key":"bibr5-0883073820928784","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2015.07.004"},{"key":"bibr6-0883073820928784","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70061-3"},{"key":"bibr7-0883073820928784","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118895"},{"key":"bibr8-0883073820928784","doi-asserted-by":"publisher","DOI":"10.1016\/S1090-3798(99)80015-4"},{"key":"bibr9-0883073820928784","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420314"},{"key":"bibr10-0883073820928784","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.09.015"},{"key":"bibr11-0883073820928784","unstructured":"US Food and Drug Administration. FDA approves innovative gene therapy to treat pediatric patients with spinal muscular atrophy, a rare disease and leading genetic cause of infant mortality. https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-approves-innovative-gene-therapy-treat-pediatric-patients-spinal-muscular-atrophy-rare-disease. Accessed October 14, 2019."},{"key":"bibr12-0883073820928784","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1702752"},{"key":"bibr13-0883073820928784","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1710504"},{"key":"bibr14-0883073820928784","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007527"},{"key":"bibr15-0883073820928784","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(16)31408-8"},{"key":"bibr16-0883073820928784","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1706198"},{"key":"bibr17-0883073820928784","doi-asserted-by":"crossref","unstructured":"De Vivo DC, Topaloglu H, Swoboda KJ, et al. Nusinersen in infants who initiate treatment in a presymptomatic stage of spinal muscular atrophy (SMA): interim efficacy and safety results from the phase 2 NURTURE Study (S25.001). 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