COMPREHENSIVE REVIEW ON NOVEL TREATMENT OF SMA TYPE 1

Spinal muscular atrophy (SMA) type 1 is a serious inherited neuromuscular condition that primarily affects infants, leading to progressive muscle weakness as a result of motor neuron loss. Spinal muscular atrophy mainly develops when both copies of the SMN1 gene are deleted or altered, resulting in a reduced amount of functional SMN protein in the body. Infants affected by this condition typically experience severe hypotonia, delayed motor development, difficulty feeding and swallowing, and respiratory issues. Previously, SMA type 1 was linked to low survival rates and few available treatment choices. However, the emergence of disease-modifying therapies has significantly enhanced both the management and outcomes for affected children. This review highlights recent progress in treating SMA type 1, with particular attention to nusinersen, onasemnogene abeparvovec, and risdiplam. Nusinersen and risdiplam boost the production of functional SMN protein by altering SMN2 gene splicing, whereas onasemnogene abeparvovec supplies a functional copy of the SMN1 gene via gene replacement therapy. Clinical evidence indicates that these therapies can enhance motor development, respiratory function, and survival, particularly when treatment begins early. Even with these developments, issues such as side effects, drug administration, accessibility, long-term efficacy, and treatment response continue to be key considerations. Emerging strategies, such as next-generation gene therapies, myostatin inhibitors, gene-editing techniques, and combination treatments, are also under investigation. Early detection and prompt treatment may improve the chances of preserving motor function and achieving better long-term outcomes in children with SMA type 1.