Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.
Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
J Neuromuscul Dis. 2021;8(4):543-551. doi: 10.3233/JND-200611.
While Spinal Muscular Atrophy (SMA) has historically been managed with supportive measures, the emergence of innovative medicines has given those living with SMA hope for improved quality of life and has revolutionized care. Despite these advances, the use of therapies and changes in disease management strategies have focused on pediatric populations, leaving adults living with SMA, and those transitioning into adulthood, relatively neglected. Through a multi-faceted approach that gathered unbiased perspectives from clinical experts, validated insights from individuals with lived experiences, and substantiated findings with evidence from the literature, we have exposed unmet needs that are hindering the field and, ultimately, impacting care and quality of life for adults living with SMA. Here, we set new aspirations and calls to action to inspire continued research in this field, stimulate dialogue across the SMA community and inform policies that deliver effective management and care throughout an adult's journey living with SMA.
虽然脊髓性肌萎缩症（SMA）在历史上一直采用支持性措施进行治疗，但创新药物的出现为 SMA 患者带来了改善生活质量的希望，并彻底改变了治疗方式。尽管取得了这些进展，但治疗方法的应用和疾病管理策略的改变主要集中在儿科人群，而成年 SMA 患者和即将进入成年期的患者则相对被忽视。通过一种多方面的方法，我们从临床专家那里收集了无偏见的观点，从有过患病经历的人那里获得了经过验证的见解，并从文献中的证据中获得了确凿的发现，从而揭示了阻碍该领域发展的未满足需求，最终影响了成年 SMA 患者的护理和生活质量。在这里，我们提出了新的期望和行动呼吁，以激励该领域的持续研究，激发 SMA 社区内的对话，并为成年 SMA 患者的整个治疗过程提供有效的管理和护理提供政策信息。
