Update on drug treatment of spinal muscular atrophy

Abstract

The 5q-associated spinal muscular atrophy (SMA) is ahereditary motor neuron disease leading to progressive tetraplegia, often involving the bulbopharyngeal and respiratory muscle groups. The disease usually manifests in early childhood and, if untreated, is progressive throughout life and associated with numerous complications depending on the severity. Since 2017, genetically based therapeutic mechanisms are now available that correct the causative deficiency of survival motor neuron (SMN) protein and lead to significant modifications in disease progression. As the number of treatment options increases, the question of which patient is suitable for which treatment also arises. This review article provides an update on the current treatment strategies for SMA in children and adults.