[Neuromuscular disease: respiratory clinical assessment and follow-up]

Abstract

Patients with neuromuscular disease are an important group at risk of frequently suffering acute or chronic respiratory failure, which is their main cause of death. They require follow-up by a pediatric respiratory medicine specialist from birth or diagnosis in order to confirm the diagnosis and treat any respiratory complications within a multidisciplinary context. The ventilatory support and the cough assistance have improved the quality of life and long-term survival for many of these patients. In this paper, the authors review the pathophysiology, respiratory function evaluation, sleep disorders, and the most frequent respiratory complications in neuromuscular diseases. The various treatments used, from a respiratory medicine point of view, will be analyzed in a next paper.

Keywords: Atrofia muscular espinal; Chronic respiratory failure; Distrofia muscular de Duchenne; Duchenne muscular dystrophy; Enfermedad neuromuscular; Insuficiencia respiratoria crónica; Neumología pediátrica; Neuromuscular disease; Non-invasive ventilation; Pediatric respiratory medicine; Sleep-disordered breathing; Spinal muscular atrophy; Trastorno respiratorio del sueño; Ventilación no invasiva.