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State of the art: pregnancy in spinal muscular atrophy in the treatment era

An increasing number of adults with spinal muscular atrophy (SMA) wish to become parents. New disease-modifying therapies (DMT) have improved health outcomes and are expected to reduce disability in adults with SMA, but their current label prevents their use in pregnancy. While there is some informa...

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Bibliographische Detailangaben
Hauptverfasser: Walter, Maggie C. (VerfasserIn) , Günther, Bernert (VerfasserIn) , Blaschek, Astrid (VerfasserIn) , Deschauer, Marcus (VerfasserIn) , Günther, René (VerfasserIn) , Hiebeler, Miriam (VerfasserIn) , Hahn, Andreas (VerfasserIn) , Kamm, Christoph (VerfasserIn) , Kirschner, Janbernd (VerfasserIn) , Lochmüller, Hanns (VerfasserIn) , Löscher, Wolfgang (VerfasserIn) , Müller-Felber, Wolfgang (VerfasserIn) , Rudnik-Schöneborn, Sabine (VerfasserIn) , Schara-Schmidt, Ulrike (VerfasserIn) , Thiele, Simone (VerfasserIn) , Uzelac, Zeljko (VerfasserIn) , Vill, Katharina (VerfasserIn) , Weiler, Markus (VerfasserIn) , Hagenacker, Tim (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: September 12, 2025
In: Journal of neuromuscular diseases
Year: 2025, Pages: ?
ISSN:2214-3602
DOI:10.1177/22143602251370414
Online-Zugang:Verlag, kostenfrei, Volltext: https://doi.org/10.1177/22143602251370414
Volltext
Verfasserangaben:Maggie C Walter, Bernert Günther, Blaschek Astrid, Deschauer Marcus, Günther René, Hiebeler Miriam, Hahn Andreas, Kamm Christoph, Kirschner Janbernd, Lochmüller Hanns, Löscher Wolfgang, Müller-Felber Wolfgang, Rudnik-Schöneborn Sabine, Schara-Schmidt Ulrike, Thiele Simone, Uzelac Zeljko, Vill Katharina, Weiler Markus and Hagenacker Tim
Beschreibung
Zusammenfassung:An increasing number of adults with spinal muscular atrophy (SMA) wish to become parents. New disease-modifying therapies (DMT) have improved health outcomes and are expected to reduce disability in adults with SMA, but their current label prevents their use in pregnancy. While there is some information on pregnancy outcomes in the pre-DMT era, little has been published recently, and no ubiquitously accepted guidelines exist. Nonetheless, it is crucial to provide knowledgeable and open counselling, ideally in the context of treatments. Counseling for both adolescent and adult patients should include the subject of ‘reproductive choices’ when discussing the selection of DMTs for those considering parenthood. A multi-disciplinary team, including gynecologists and neurologists with expertise in neuromuscular disorders must closely monitor pregnant patients with SMA, preferably within disease registries, to detect potential complications early and ensure optimal treatment options are available. Real-world data in so far three patients with SMA showed a beneficial pregnancy outcome with nusinersen. It is anticipated that forthcoming real-world data will finally clarify the safety of administering Nusinersen during pregnancy, particularly in relation to child health and for preserving muscle function and preventing motor deterioration in the affected mother.
Beschreibung:Gesehen am 10.02.2026
Beschreibung:Online Resource
ISSN:2214-3602
DOI:10.1177/22143602251370414

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