PDF(Pubmed)
Abstract：
Spinal muscular atrophy (SMA) is a neuromuscular genetic disorder caused by the loss of lower motor neurons leading to progressive muscle weakness and atrophy. With the rise of novel therapies and early diagnosis on newborn screening (NBS), the natural history of SMA has been evolving. Earlier therapeutic interventions can modify disease outcomes and improve survival. The role of treatment in infants born preterm is an important question given the importance of early intervention. In this study, we discuss the case of an infant born at 32 weeks who was diagnosed with SMA on NBS and was treated with Spinraza® (Nusinersen) and Zolgensma® (Onasemnogene abeparvovec-xioi) within the first 2 months of life. With the scarce evidence that currently exists, clinicians should be aware of the efficacy and safety impact of early therapy particularly in the preterm infant.
摘要：
脊髓性肌萎缩症（SMA）是一种神经肌肉遗传疾病，由下部运动神经元的丧失引起，导致进行性肌肉无力和萎缩。随着新疗法的兴起和新生儿筛查（NBS）的早期诊断，SMA的自然历史一直在演变。早期的治疗干预可以改变疾病结果并提高生存率。鉴于早期干预的重要性，治疗在早产婴儿中的作用是一个重要的问题。在这项研究中,我们讨论了一例32周时出生的婴儿在NBS上被诊断为SMA,并在出生后的前2个月内接受Spinraza®(Nusinersen)和Zolgensma®(Onasemnogeneabeparvovovec-xioi)治疗的病例.鉴于目前存在的稀缺证据，临床医生应该意识到早期治疗的有效性和安全性，特别是在早产儿。
