Pharmacological and Gene Therapy for Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the deletion or mutation of the SMN1 gene. It is characterized by progressive degeneration of anterior horn motor neurons in the spinal cord, resulting in progressive muscle weakness, muscle atrophy, and respiratory impairment. With the advent of disease-modifying therapy, SMA has evolved from a previously fatal disorder with limited treatment options into a chronic disease that can be managed over the long term. This review summarizes the pathogenesis, clinical classification, and diagnostic features of SMA, with a particular focus on recent advances in pharmacological and gene therapy. It also discusses the limitations of current therapeutic approaches, including long-term efficacy, safety, and clinical application, and highlights the future prospects of emerging therapeutic strategies. Overall, existing treatments have substantially improved survival and motor function in patients with SMA. Future efforts should focus on expanding newborn screening and presymptomatic intervention programs, while promoting precision medicine, individualized treatment, and multidisciplinary care to further improve long-term outcomes and quality of life for patients with SMA.