Pathophysiology and biomaterials based therapeutic strategies for spinal muscular atrophy

Spinal muscular atrophy (SMA) is a disorder characterized by the degeneration of lower motor neurons caused by mutations in the survival motor neuron 1 (SMN1) gene on chromosome 5. These mutations lead to a decline in SMN protein levels, which contributes to the development of this disease. SMA is an autosomal recessive disorder that results in intensified weakness in respiratory and skeletal muscles, leading to severe disability. Understanding the pathophysiology and etiology of the disease paves a clear path for scientists in developing and advancing treatment approaches for this condition.

This review article provides an overview of SMA, encompassing the characteristics of the disease, standard-of-care techniques, including respiratory care and physiotherapy, and existing treatments and recent advancements in novel therapeutic strategies and biomaterials for SMA. Several limitations associated with the existing SMA treatment methods are also discussed.

The review highlights significant progress in SMA therapy, including gene replacement therapies, antisense oligonucleotides, and small-molecule drugs that enhance SMN protein production. Despite these advancements, current treatments face limitations related to delivery efficiency, cost, and long-term efficacy. Novel biomaterials and delivery systems show promise in overcoming these challenges and improving treatment outcomes.

A deeper understanding of SMA pathophysiology has led to transformative therapeutic advances; however, challenges remain in optimizing treatment accessibility, durability, and safety. Continued research focusing on innovative therapeutic designs and biomaterial applications holds potential to further enhance the quality of life and prognosis for individuals with SMA.