Scoliosis in spinal muscular atrophy in the era of disease-modifying therapy: a scoping review.

Abstract

Spinal muscular atrophy (SMA) frequently causes scoliosis (up to 90% of cases), due to weakened axial muscles impacting motor and respiratory function. While new SMA treatments improve motor function, their effect on scoliosis progression is unclear. This scoping review (2016-October 2024) analyzed literature from Pubmed, MEDLINE, EMBASE, and Scopus, focusing on studies of SMA, scoliosis, and treatment approaches. The aim of this work was to describe the clinical features and the possible therapeutic approaches of scoliosis in the "new population" of pharmacologically treated SMA patients. We included all types of SMA as well as all the approved disease modifying therapies (DMTs). The review found significant variability in scoliosis presentation and surgical intervention among different types of treated SMA patients. Early pharmacological treatment may slow scoliosis progression, particularly in Type II SMA. Interestingly, Type I SMA patients, who typically don't develop scoliosis due to severe hypotonia, showed an increased scoliosis onset. Larger studies are needed to fully evaluate the impact of different treatments on scoliosis progression in SMA, especially in Type I SMA patients, to establish updated standards of care.