title: Pulmonary Manifestations of Neuromuscular Diseases.
abstract: Neuromuscular disorders comprise a phenotypically diverse group of inherited and acquired diseases; however, they share common pathophysiologic mechanisms which produce significant respiratory complications. Respiratory and bulbar muscle weakness gives rise to ineffective cough, swallowing dysfunction results in aspiration-related lung disease, and abnormal muscle tone produces chest wall deformities - all of which ultimately leads to repeated chest infections and chronic respiratory failure. In this article, the authors describe the respiratory manifestations of neuromuscular disease and their underlying pathophysiological mechanisms. This review also highlights the diagnostic and management tools recommended for acute and chronic care. Aggressive pulmonary management is the most impactful at reducing the overall morbidity and improving the quality of life of children with neuromuscular disorders, at least while definitive molecular and gene replacement therapies remain elusive.
authors.affiliation: Division of Respiratory and Sleep Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA, umakanth.khatwa@childrens.harvard.edu.
authors.forename: Umakanth Amabalalsa
authors.initials: UA
authors.lastname: Khatwa
authors.forename: Fei Jamie
authors.initials: FJ
authors.lastname: Dy
mesh_terms: D002648:Child; D006801:Humans; D008171:Lung Diseases / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy; D009468:Neuromuscular Diseases / Q000150:complications* / Q000503:physiopathology