Many neuromuscular diseases are genetically inherited or caused by mutations in motor function proteins. Two of the most prevalent neuromuscular diseases are Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA), which are often diagnosed during the early years of life, contributing to life-long debilitation and shorter longevity. DMD is caused by mutations in the dystrophin gene resulting in critical muscle wasting, with cardiac or respiratory failure by age 30. Lack of dystrophin protein is the leading cause of degeneration of skeletal and cardiac muscle. Corticosteroids and artificial respirators remain as the gold-standard management of complications and have significantly extended the life span of these patients. Additionally, drug therapies including eteplirsen (EXONDYS 51®), golodirsen (VYONDYS 53™), and viltolarsen (VILTEPSO®) have been approved by the FDA to treat specific types of DMD. SMA is defined by the degeneration of the anterior horn cells in the spinal cord and destruction of motor neuron nuclei in the lower brain-stem caused by SMN1 gene deletion. Loss of SMN1 protein is partly compensated by SMN2 protein synthesis with disease severity being affected by the success of SMN2 gene synthesis. Evidence-based recommendations for SMA are directed towards supportive therapy and providing adequate nutrition and respiratory assistance as needed. Treatment and prevention of complications of muscle weakness are crucial for reducing the phenotype expression of SMA. Furthermore, drug therapies including injectables such as onasemnogene abeparvovec-xioi (ZOLGENSMA®), nusinersen (SPINRAZA®), and an oral-solution, risdiplam (EVRYSDI™), are medications that have been FDA-approved for the treatment of SMA. This review discusses the current and emerging therapeutic options for patients with DMD and SMA.

许多神经肌肉疾病是遗传遗传的或由运动功能蛋白的突变引起的。两种最普遍的神经肌肉疾病是杜氏肌营养不良症 (DMD) 和脊髓性肌萎缩症 (SMA)，它们通常在生命的早期被诊断出来，导致终生虚弱和寿命缩短。DMD 是由抗肌萎缩蛋白基因突变引起的，导致严重的肌肉萎缩，到 30 岁时会出现心力衰竭或呼吸衰竭。缺乏抗肌萎缩蛋白是骨骼肌和心肌退化的主要原因。皮质类固醇和人工呼吸器仍然是治疗并发症的金标准，并显着延长了这些患者的寿命。此外，药物疗法包括 eteplirsen (EXONDYS 51®)、golodirsen (VYONDYS 53™)、和 viltolarsen (VILEPSO®) 已被 FDA 批准用于治疗特定类型的 DMD。SMA 是由 SMN1 基因缺失引起的脊髓前角细胞退化和下脑干运动神经元核破坏定义的。SMN1 蛋白的损失部分由 SMN2 蛋白合成补偿，疾病严重程度受 SMN2 基因合成成功的影响。针对 SMA 的循证建议旨在支持治疗，并根据需要提供足够的营养和呼吸援助。肌肉无力并发症的治疗和预防对于降低 SMA 的表型表达至关重要。此外，药物疗法包括注射剂，如 onasemnogene abeparvovec-xioi (ZOLGENSMA®)、nusinersen (SPINRAZA®) 和口服溶液 risdiplam (EVRYSDI™)，是经 FDA 批准用于治疗 SMA 的药物。本综述讨论了 DMD 和 SMA 患者当前和新兴的治疗选择。