Spinal Muscular Atrophy-Survivorship and Care in a New Therapeutic Landscape

Spinal muscular atrophy (SMA) is an inherited lower motor neuron disorder resulting from autosomal recessive variants in the survival motor neuron protein (SMN1) located on chromosome 5q. Previously the most common inherited cause of infant mortality, the development of SMN-restoring disease-modifying therapies combined with the expansion of newborn screening programs for SMA, have improved motor function and survival. With improved function and survival, new questions are emerging around the role of combining multiple SMN-restoring therapies or SMN-restoring therapies with newer therapeutic agents targeting other pathways such as neuromuscular transmission or muscle growth. Additionally, with the earlier initiation of SMN-restoring disease-modifying therapies, the assessment of long-term treatment durability, motor function attained and retained, neurodevelopment, and potential emerging phenotypes or symptoms in individuals living with SMA will need to be explored.