Respiratory morbidity in patients with spinal muscular atrophy—a changing world in the light of disease-modifying therapies

Abstract

Respiratory complications are common in spinal muscular atrophy (SMA) and significantly contribute to morbidity and mortality in these patients. Generalized respiratory and bulbar muscle weakness translates into diverse and complex clinical consequences necessitating strict follow-up and specialized care. The natural history of SMA has evolved drastically in recent years as a result of the introduction of novel, disease-modifying therapies. While the impact of these therapies on motor function is well described in literature, its consequence for respiratory management has not been extensively studied. In this review we aim to provide a comprehensive overview of the respiratory morbidities, their follow-up, management, and the impact of novel therapies in SMA.

Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait

“…The occurrence of chest infections and mild restrictive lung disease is likely a feature of the disease rather than an adverse effect of nusinersen treatment. Chest infections are a common complication in SMA patients due to weakened respiratory muscles and impaired cough reflexes, which increase susceptibility to respiratory infections [ 37 ]. Similarly, the development of scoliosis, which is a well-documented feature of SMA attributed to muscle weakness and imbalances, is also thought to be a consequence of disease activity as opposed to a side effect of nusinersen [ 38 , 39 ].…”