Chronic respiratory failure after the first dose of nusinersen treatment: A case report

Spinal muscular atrophy (SMA) is a disease characterized by progressive nerve cell loss in the spinal cord and brainstem. It can be fatal if left untreated, particularly in infantile forms. Nusinersen became the first disease-modifying agent to be approved in 2016 for the treatment of all types of 5q-associated SMA, across all age groups. Trials have shown that the drug has an acceptable safety profile and has significantly improved clinical care for patients; however, data on long-term risks and benefits are limited. Respiratory problems following use of the drug are an important potential complication and the mechanisms of action are not fully understood. This study reports on a patient with type 1 SMA who developed chronic respiratory failure after the first dose of nusinersen, a condition not previously reported. Although nusinersen significantly improves patients' quality of life, its long-term or rare side effects are not well understood. Patients should be closely monitored for respiratory side effects, especially after the first dose, and families should be thoroughly informed about potential respiratory complications. How to cite this article: Orhan Ö, Talay MN, Büyükşahin HN, Demirbuğa A, Özbek MN, Özgün N. A case of chronic respiratory failure after the first dose of nusinersen treatment. J Med Dent Invest. 2024; 5: e240341.