DefinePK

Abstract

Spinal muscular atrophy (SMA) is a serious neuromuscular condition marked by the gradual loss of α-motor neurons, resulting from inadequate production of survival motor neuron (SMN) protein. Progress in molecular genetics has enabled the creation of specialized treatments, revolutionizing SMA treatment and patient outcomes. This review explores the molecular mechanisms underlying SMA, current diagnostic techniques, and recent therapeutic approaches, including disease-modifying gene therapies such as antisense oligonucleotides (Nusinersen), small molecules (Risdiplam), and AAV9 gene delivery (Onasemnogene abeparvovec). Additionally, the review discusses the emerging potential of CRISPR/Cas9-based gene editing and the role of comprehensive care strategies, including rehabilitation and multidisciplinary management, in improving quality of life. A comparative analysis of FDA-approved treatments highlights their clinical efficacy, safety, and long-term implications. Furthermore, the review underscores the importance of combining gene therapies with supportive care techniques to optimize SMA management. As research advances, an integrated approach incorporating novel gene-editing tools and personalized treatment strategies may further enhance therapeutic outcomes, providing hope for a more effective and long-term solution for SMA patients.