PDF(Pubmed)
Abstract：
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that causes muscle atrophy and weakness. While no specific therapies existed until a few years ago, several effective disease-modifying treatments have become available in recent years. However, there are currently no recommendations on the management of therapy sequencing involving these new treatments. A 4-months-old girl with SMA type 1 and two copies of SMN2 was started on treatment with nusinersen resulting in significant improvement in her motor and respiratory function. However, after six doses, treatment was changed to Zolgensma® due to caregiver\'s decision. In the months following the administration, the patient showed significant clinical improvement in motor performance. After 12 months, the child started therapy with risdiplam in another country. One year after the start of therapy with risdiplam further improvements in both motor and bulbar functions were highlighted. This case report raises a question: is a multiple consecutive theraphy more effective than monotherapy in SMA treatment? These results suggest the need to further explore the potential efficacy of a multidrug treatment.
摘要：
脊髓性肌萎缩症（SMA）是一种常染色体隐性神经肌肉疾病，可引起肌肉萎缩和虚弱。虽然直到几年前还没有特定的治疗方法，近年来已有几种有效的疾病改善治疗方法.然而,目前没有关于涉及这些新疗法的治疗测序管理的建议.一个4个月大的1型SMA女孩和两个SMN2副本开始接受nusinersen治疗，从而显着改善了她的运动和呼吸功能。然而,在六次剂量后，由于护理人员的决定，治疗更改为Zolgensma®。在政府执政后的几个月里，患者的运动表现显着改善。12个月后,这个孩子在另一个国家开始用瑞司普兰治疗。在使用利司普坦开始治疗一年后，突出了运动和延髓功能的进一步改善。此病例报告提出了一个问题：在SMA治疗中，多次连续治疗是否比单一治疗更有效？这些结果表明需要进一步探索多种药物治疗的潜在疗效。
