Department of Physical Medicine and Rehabilitation, University of Washington, Seattle, Washington, USA.
Department of Neurology, University of Washington, Seattle, Washington, USA.
Muscle Nerve. 2022 May;65(5):498-507. doi: 10.1002/mus.27519. Epub 2022 Feb 26.
Spinal muscular atrophy (SMA) is a group of neurodegenerative disorders resulting from the loss of spinal motor neurons. 95% of patients share a pathogenic mechanism of loss of survival motor neuron (SMN) 1 protein expression due to homozygous deletions or other mutations of the SMN1 gene, with the different phenotypes influenced by variable copy numbers of the SMN2 gene. Advances in supportive care, disease modifying treatment and novel gene therapies have led to an increase in the prevalence of SMA, with a third of SMA patients now represented by adults. Despite the growing number of adult patients, consensus on the management of SMA has focused primarily on the pediatric population. As the disease burden is vastly different in adult SMA, an approach to treatment must be tailored to their unique needs. This review will focus on the management of the adult SMA patient as they age and will discuss proper transition of care from a pediatric to adult center, including the need for continued monitoring for osteoporosis, scoliosis, malnutrition, and declining mobility and functioning. As in the pediatric population, multidisciplinary care remains the best approach to the management of adult SMA. Novel and emerging therapies such as nusinersen and risdiplam provide hope for these patients, though these medications are of uncertain efficacy in this population and require additional study.
脊髓性肌萎缩症（SMA）是一组由脊髓运动神经元丧失引起的神经退行性疾病。95%的患者具有相同的致病机制，即由于 SMN1 基因的纯合缺失或其他突变导致生存运动神经元（SMN）1 蛋白表达丧失，不同表型受 SMN2 基因的可变拷贝数影响。支持性护理、疾病修饰治疗和新型基因治疗的进步导致 SMA 的患病率增加，现在有三分之一的 SMA 患者为成年人。尽管成年患者数量不断增加，但 SMA 的管理共识主要集中在儿科人群。由于成人 SMA 的疾病负担差异很大，因此必须针对其独特需求制定治疗方法。本文将重点讨论随着年龄增长的成年 SMA 患者的管理，并讨论从儿科中心到成人中心的适当护理过渡，包括持续监测骨质疏松症、脊柱侧凸、营养不良、活动能力和功能下降的必要性。与儿科人群一样，多学科护理仍然是 SMA 成年患者管理的最佳方法。新型和新兴疗法，如 nusinersen 和 risdiplam，为这些患者带来了希望，尽管这些药物在该人群中的疗效不确定，需要进一步研究。
