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Unexpected but successful non-instrumental vaginal delivery in a spinal muscular atrophy type II pregnant patient

dc.contributor.authorNunes Vicente, Beatriz
dc.contributor.authorOliveira Santos, Miguel
dc.date.accessioned2021-06-21T16:52:38Z
dc.date.available2021-06-21T16:52:38Z
dc.date.issued2021
dc.descriptionCopyright © 2021, Fondazione Società Italiana di Neurologiapt_PT
dc.description.abstractSpinal muscular atrophy (SMA) is an autosomal recessive motor neuron disorder caused by homozygous deletion or mutation in 5q11.2-q13.3, affecting the SMN1 gene. It is characterized by progressive lower motor neuron loss in the brainstem and spinal cord, resulting in muscle weakness and atrophy. SMA is classified into four distinct clinical phenotypes, from the most severe phenotype (type I) to milder clinical forms (type IV), based on onset age and the highest level of motor milestones. Therefore, many SMA female patients reach fertile age and consider pregnancy. To date, there have been few reports on pregnancy in women with SMA type II, and all of them were instrumental or caesareans deliveries.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationNeurol Sci. 2021 Jun 5.pt_PT
dc.identifier.doi10.1007/s10072-021-05344-6pt_PT
dc.identifier.eissn1590-3478
dc.identifier.issn1590-1874
dc.identifier.urihttp://hdl.handle.net/10451/48685
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Naturept_PT
dc.relation.publisherversionhttps://www.springer.com/journal/10072pt_PT
dc.titleUnexpected but successful non-instrumental vaginal delivery in a spinal muscular atrophy type II pregnant patientpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleNeurological Sciencespt_PT
person.familyNameNunes Vicente
person.familyNameOliveira Santos
person.givenNameBeatriz
person.givenNameMiguel
person.identifier.ciencia-idB511-DD32-12D7
person.identifier.orcid0000-0001-5681-8491
person.identifier.orcid0000-0002-8290-0410
person.identifier.scopus-author-id57217474349
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationc5a175d3-3944-4a1f-8767-6f2805832257
relation.isAuthorOfPublicationeab02009-54a9-4518-8b22-9426433cea69
relation.isAuthorOfPublication.latestForDiscoveryc5a175d3-3944-4a1f-8767-6f2805832257

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