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.

Role of N-Acetylcysteine in Clearance of Secretions in Mechanical Ventilated Patients

“…In some countries of Europe N-acetylcysteine used to improve symptoms and decrease frequency of exacerbations in chronic bronchitis. Mucolytic agents are considered ineffective and are not used frequently in USA, Australia and UK (7). Guidelines issued by British thoracic society proposed that in chronic obstructive pulmonary disease, it has no use.…”

Feasibility of a Respiratory Movement Evaluation Tool to Quantify Thoracoabdominal Movement for Neuromuscular Diseases

“…1 The consequences of progressive respiratory muscle weakness are low tidal volume, ineffective cough, recurrent respiratory infections, progressive airway obstruction, and sleep-disordered breathing, ultimately leading to alveolar hypoventilation and respiratory failure. 2 Assessment of respiratory function, which includes spirometry, maximum inspiratory and expiratory pressures, cough peak flow, and blood gas analysis, has been shown to generally facilitate the prevention of complications. 3 Decreased mobility of the chest wall is one of the major causes of alveolar hypoventilation and respiratory failure in neuromuscular diseases.…”

Editorial: Old Problems and New Solutions in Pediatric Pulmonology

“…The series on pediatric pulmonology continues in this issue of the Journal, with four manuscripts that illustrate the new problems of our burgeoning speciality [1][2][3][4]. These are how the management of old problems (in this case TB) is being transformed by cutting edge science [1]; how the application of new technologies are creating challenging problems (congenital lung disease) [2]; and how new technologies are transforming the lives of children (neuromuscular disease and NIV) and taking mechanical ventilation, what used to be the prerogative of intensive care into the home, transforming the prognosis of children [3,4].…”

“…These are how the management of old problems (in this case TB) is being transformed by cutting edge science [1]; how the application of new technologies are creating challenging problems (congenital lung disease) [2]; and how new technologies are transforming the lives of children (neuromuscular disease and NIV) and taking mechanical ventilation, what used to be the prerogative of intensive care into the home, transforming the prognosis of children [3,4]. However, as we shall see, the more the speciality advances, the more the basic truths we learned as students remain the bedrock of our practice.…”

“…The necessary aggressive respiratory management is outlined in an article in the Journal [3], including the diagnostic tools deployed to delineate the problem. The numerous diagnoses are summarised, some of which are presenting us with ethical dilemmas -what should be offered to a baby with severe SMA-1 with antenatal onset?…”