The role of sleep-disordered breathing in adolescents with spinal muscular atrophy

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder increasingly recognized in adolescents and adults due to advances in supportive care and disease-modifying therapies. Respiratory muscle weakness and bulbar dysfunction predispose patients to sleep-disordered breathing (SDB), which frequently manifests as nocturnal hypoventilation, central or obstructive sleep apnea, and recurrent pulmonary infections. Early recognition of SDB in SMA is critical. Polysomnography remains the diagnostic gold standard for SDB, whereas overnight oximetry or transcutaneous CO₂ monitoring may serve as alternatives when medical resources are limited. Non-invasive ventilation (NIV) is the mainstay of therapy, effectively correcting hypoventilation, reducing respiratory morbidity, and improving quality of life and survival. The timing of NIV initiation should be guided by symptoms, pulmonary function and sleep study findings. Although disease-modifying therapies such as nusinersen, risdiplam, and gene replacement have transformed motor outcomes, their impact on SDB remains unclear. Thus, comprehensive respiratory evaluation and individualized ventilatory support are still essential components of multidisciplinary care. Further studies are warranted to determine the long-term respiratory benefits of emerging therapies and to establish standardized strategies for SDB management in adolescent and adult SMA patients.