Pulmonary management of spinal muscular atrophy

Spinal muscular atrophy (SMA) has an impact on respiratory complications that are dependent on the severity of the loss of muscle function. Individuals with SMA type I or II typically develop respiratory muscle weakness, with progressive respiratory failure in most severe forms. Ineffective cough is a result of inspiratory and more expiratory muscle weakness and contributes to repeated respiratory infections. In some patients, gradual progression results in sleep-disordered breathing. Over the last decade, there has been increasing evidence of improvements in the natural history of all the SMA types. Even in the most severe form, there has been an increase insurvival and quality of life as a result of a more proactive approach, following the introduction of non-invasive ventilation and cough assist devices. The approval of the first drug for SMA in December 2016 and promising early results from other clinical trials have changed the perspective of physicians and families dramatically, especially in SMA type I. The mainstay of care is amultidisciplinary team, where a pneumologist and a respiratory physiotherapist play an important role. The variability in clinical care between medical centers has resulted in Consensus Statement for Standards of Care. Here we present a modified version of these standards.