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

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Maggie C Walter - , Hospital of the Ludwig-Maximilians-University (LMU) Munich (Author)
  • Bernert Günther - , Austrian Muscle Research (Author)
  • Blaschek Astrid - , Hospital of the Ludwig-Maximilians-University (LMU) Munich, Dr. von Haunersche Children's Hospital (Author)
  • Deschauer Marcus - , Klinikum Rechts der Isar (MRI TUM) (Author)
  • Günther René - , Department of Neurology (Author)
  • Hiebeler Miriam - , Hospital of the Ludwig-Maximilians-University (LMU) Munich (Author)
  • Hahn Andreas - , Justus Liebig University Giessen (Author)
  • Kamm Christoph - , University of Rostock (Author)
  • Kirschner Janbernd - , University Medical Center Freiburg (Author)
  • Lochmüller Hanns - , University of Ottawa (Author)
  • Löscher Wolfgang - , Innsbruck Medical University (Author)
  • Müller-Felber Wolfgang - , Hospital of the Ludwig-Maximilians-University (LMU) Munich, Dr. von Haunersche Children's Hospital (Author)
  • Rudnik-Schöneborn Sabine - , Innsbruck Medical University (Author)
  • Schara-Schmidt Ulrike - , University Hospital Essen (Author)
  • Thiele Simone - , Hospital of the Ludwig-Maximilians-University (LMU) Munich (Author)
  • Uzelac Zeljko - , Ulm University Medical Center (Author)
  • Vill Katharina - , Hospital of the Ludwig-Maximilians-University (LMU) Munich, Dr. von Haunersche Children's Hospital (Author)
  • Weiler Markus - , University Hospital Heidelberg (Author)
  • Hagenacker Tim - , University Hospital Essen (Author)

Abstract

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.

Details

Original languageEnglish
Pages (from-to)274 - 281
Number of pages8
JournalJournal of neuromuscular diseases
Volume13
Issue number3
Early online date12 Sept 2025
Publication statusPublished - May 2026
Peer-reviewedYes

External IDs

unpaywall 10.1177/22143602251370414
Scopus 105041203529

Keywords

ASJC Scopus subject areas

Keywords

  • disease modifying treatment, nusinersen, parenthood, pregnancy, risdiplam, spinal muscular atrophy