ABSTRACT
5q-spinal muscular atrophy (5q-SMA) is an autosomal recessive neuromuscular disorder caused by a biallelic mutation of the survival of motor neuron 1 SMN1 gene. The resulting lack of SMN protein causes a progressive degeneration of anterior motor neurons and muscular atrophy, which leads to a progressive scoliosis in two-thirds of affected cases. Depending on the disease subtype and severity, affected patients can subsequently develop respiratory insufficiency, leading to a fatal outcome. Ground-breaking research on this devastating disorder has led to the approval of novel therapies that may alter the clinical course of this disease in the future. Here we present a summary of these new therapies, current operative strategies for 5q-SMA associated scoliosis and provide an outlook for possible implications for the future.
