Spinal Muscular Atrophy : A Clinical Review

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that primarily affects motor neurons, leading to progressive muscle weakness and atrophy. It is caused by mutations in the SMN1 gene, which result in reduced levels of the survival motor neuron (SMN) protein, essential for muscle function. SMA presents in different types, ranging from severe infantile-onset forms to milder adult-onset cases, with symptoms affecting mobility, breathing, and motor development.This clinical review provides an overview of SMA's genetic basis, classification, symptoms, and diagnostic methods. It also examines advancements in treatment strategies, including gene therapy (such as onasemnogene abeparvovec), SMN2 splicing modifiers (like nusinersen), and supportive care to improve quality of life. The review further highlights challenges in early diagnosis, accessibility to therapies, and the importance of newborn screening programs for better outcomes. The goal is to offer a comprehensive understanding of SMA to inform clinicians, caregivers, and public health practitioners on effective disease management and emerging therapeutic options.