Spinal muscular atrophy: state of the art and new therapeutic strategies

Abstract

Spinal muscular atrophy (SMA) is a severe disorder of motor neurons and the most frequent cause of genetic mortality, due to respiratory complications. We are facing an exciting era with three available therapeutic options in a disease considered incurable for more than a century. However, the availability of effective approaches has raised up ethical, medical, and financial issues that are routinely faced by the SMA community. Each therapeutic strategy has its weaknesses and strengths and clinicians need to know them to optimize clinical care. In this review, the state of the art and the results and challenges of the new SMA therapeutic strategies are highlighted.

Keywords: Antisense oligonucleotides; Gene therapy; Nusinersen; Spinal muscular atrophy; Therapy.