Summary
Abstract Spinal muscular atrophy (SMA) is a devastating neuromuscular disease and a leading genetic cause of infantile death worldwide. Despite exciting progress in the neuromuscular field that has resulted in novel therapies, there remains no permanent cure for SMA. Therefore, developing a permanent treatment that treats the underlying genetic perturbation and all systemic manifestations of this disease would transform patients’ life. SMA is caused by mutations in the Survival Motor Neuron 1 (SMN1) gene. An important modifier of SMA severity is the number of copies of a paralogous gene SMN2.
