Spinal Muscular Atrophy in the Treatment Era

Abstract

Spinal muscular atrophy is an autosomal-recessive degenerative neuromuscular disease that has historically been categorized into 5 types based on the individual's best functional ability. Two rather remarkable treatments have recently been approved for commercial use, and both have markedly changed the natural history of this disease. Here the authors report several cases of individuals, ranging from infants to adults, to highlight diagnostic considerations, along with initial and long-term treatment considerations in these individuals who now have the potential for stabilization to significant improvement in functional outcomes.

Keywords: Multidisciplinary care; Newborn screen; Nusinersen; Onasemnogene abeparvovec-xioi; Spinal muscular atrophy.