Spinal Muscular Atrophy

Spinal muscular atrophy is one of the most common neuromuscular disorders of childhood and has high morbidity and mortality. Three different disease-modifying treatments were introduced in the last 4 years: nusinersen, onasemnogene abeparvovec, and risdiplam. These agents have demonstrated safety and efficacy, but their long-term benefits require further study. Newborn screening programs are enabling earlier diagnosis and treatment and better outcomes, but respiratory care and other supportive measures retain a key role in the management of spinal muscular atrophy. Ongoing efforts seek to optimize gene therapy vectors, explore new therapeutic targets beyond motor neurons, and evaluate the role of combination therapy.(C) 2021 Elsevier Inc. All rights reserved.

Automated summary

Spinal muscular atrophy is a common neuromuscular disorder in childhood with high morbidity and mortality. Three different disease-modifying treatments have been introduced in the last 4 years, showing safety and efficacy but requiring further study for long-term benefits. Newborn screening programs enable early diagnosis and treatment, while respiratory care and supportive measures remain key in management.