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Volume 13
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10.3390/jcm13237366
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Background:
Case Report

The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy

by
Elżbieta Stawicka
1,
Urszula Skarżyńska
2,*,
Agata Lipiec
1,
Natalia Mazanowska
3,
Joanna Stankiewicz
4,
Monika Gos
5 and
Milena Wyszczelska-Namięta
1,*
1
Clinic of Paediatric Neurology, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland
2
Department of Organization and Accounts, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland
3
Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland
4
Clinic of Anaesthesiology and Intensive Care, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland
5
Medical Genetics Department, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland
*
Authors to whom correspondence should be addressed.
J. Clin. Med. 2024, 13(23), 7366; https://doi.org/10.3390/jcm13237366
Submission received: 2 July 2024 / Revised: 13 November 2024 / Accepted: 22 November 2024 / Published: 3 December 2024
(This article belongs to the Section Clinical Neurology)
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Abstract

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’s 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.
Keywords: neurology; neuromuscular disorders (NMD); pediatric; health economics; diagnosis; prenatal; disease-modifying therapy; spinal muscular atrophy (SMA); muscle weakness neurology; neuromuscular disorders (NMD); pediatric; health economics; diagnosis; prenatal; disease-modifying therapy; spinal muscular atrophy (SMA); muscle weakness

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MDPI and ACS Style

Stawicka, E.; Skarżyńska, U.; Lipiec, A.; Mazanowska, N.; Stankiewicz, J.; Gos, M.; Wyszczelska-Namięta, M. The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy. J. Clin. Med. 2024, 13, 7366. https://doi.org/10.3390/jcm13237366

AMA Style

Stawicka E, Skarżyńska U, Lipiec A, Mazanowska N, Stankiewicz J, Gos M, Wyszczelska-Namięta M. The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy. Journal of Clinical Medicine. 2024; 13(23):7366. https://doi.org/10.3390/jcm13237366

Chicago/Turabian Style

Stawicka, Elżbieta, Urszula Skarżyńska, Agata Lipiec, Natalia Mazanowska, Joanna Stankiewicz, Monika Gos, and Milena Wyszczelska-Namięta. 2024. "The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy" Journal of Clinical Medicine 13, no. 23: 7366. https://doi.org/10.3390/jcm13237366

APA Style

Stawicka, E., Skarżyńska, U., Lipiec, A., Mazanowska, N., Stankiewicz, J., Gos, M., & Wyszczelska-Namięta, M. (2024). The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy. Journal of Clinical Medicine, 13(23), 7366. https://doi.org/10.3390/jcm13237366

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