Hiebeler Miriam, Thiele Simone, Walter Maggie C
Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany.
Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Ziemssenstrasse 1, 80336, Munich, Germany.
BMC Neurol. 2025 Jan 4;25(1):8. doi: 10.1186/s12883-024-04005-3.
Due to improved treatment options, more SMA patients reach childbearing age. Currently, limited data on pregnant SMA patients is available, especially in relation to disease-modifying therapies (DMT). This case report helps to elucidate new approaches for future guidelines in the management of pregnancy and SMA.
A 33-year-old wheelchair-bound patient with SMA type 3 (sitter) became pregnant following 36 months of Nusinersen treatment. The last dose was administered in the third gestational week. After pregnancy was confirmed, therapy was stopped immediately. A healthy child was born in the 34th gestational week by caesarean section. After a short nursing period, Nusinersen was restarted 6 weeks after the expected gestational date. At this time, the patient reported deteriorated motor functions, which stabilized at a lower level compared to pre-pregnancy in the 2-year follow-up, despite restarting Nusinersen treatment.
So far, only few cases of successful pregnancies of SMA patients on DMT have been reported. In natural history, the majority of patients experienced an increased deterioration of motor function while fetal outcome was not impaired. Our case shows that although Nusinersen treatment was applied in the third gestational week prior to proof of pregnancy, outcome was positive for mother and child. Future studies will have to determine whether ongoing treatment with Nusinersen during pregnancy should be recommended.
由于治疗方案的改进，越来越多的脊髓性肌萎缩症（SMA）患者达到生育年龄。目前，关于怀孕的SMA患者的数据有限，尤其是与疾病修正疗法（DMT）相关的数据。本病例报告有助于阐明未来SMA妊娠管理指南的新方法。
一名33岁的3型SMA（能坐）轮椅患者在接受36个月的诺西那生治疗后怀孕。最后一剂药物在妊娠第3周给药。确认怀孕后，治疗立即停止。在妊娠第34周通过剖宫产分娩出一名健康婴儿。在短暂的哺乳期后，在预期的妊娠日期后6周重新开始使用诺西那生。此时，患者报告运动功能恶化，尽管重新开始使用诺西那生治疗，但在2年的随访中，与怀孕前相比，运动功能稳定在较低水平。
到目前为止，仅有少数接受DMT治疗的SMA患者成功怀孕的病例报道。在自然病程中，大多数患者运动功能恶化加剧，而胎儿结局未受影响。我们的病例表明，尽管在确认怀孕前的妊娠第3周应用了诺西那生治疗，但母婴结局良好。未来的研究将必须确定是否应推荐在怀孕期间继续使用诺西那生进行治疗。
