Stawicka Elżbieta, Skarżyńska Urszula, Lipiec Agata, Mazanowska Natalia, Stankiewicz Joanna, Gos Monika, Wyszczelska-Namięta Milena
Clinic of Paediatric Neurology, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland.
Department of Organization and Accounts, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland.
J Clin Med. 2024 Dec 3;13(23):7366. doi: 10.3390/jcm13237366.
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. 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. 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.
有效的脊髓性肌萎缩症（SMA）治疗方法的可及性，使得越来越多受该病影响的女性达到生育年龄并决定怀孕。患有SMA的女性怀孕与症状迅速进展的高风险相关，包括虚弱加剧、轻瘫加重，甚至出现需要通气支持的呼吸衰竭。肌肉无力常常导致残疾，其中很大比例是不可逆的。早产和剖宫产是文献中最常描述的情况。本文旨在描述欧洲的首例病例，一名21岁患者在妊娠晚期根据药物项目接受了诺西那生治疗。尽管在怀孕期间疾病有显著进展，但患者并未丧失步态功能。妊娠在孕33周时结束，婴儿状况正常。除了临床数据，本文还讨论了经济方面的问题。由于治疗开始迅速，患者没有丧失行走能力，产后运动功能有显著改善。未观察到对胎儿的副作用或负面影响。
