Respiratory management of patients with neuromuscular disease: current perspectives

Abstract

Neuromuscular ventilatory weakness can be difficult to recognize because the symptoms can be nocturnal, nonspecific, or attributed to other conditions. The presence of respiratory muscle weakness suggests a number of possible heterogeneous conditions, including neurodegenerative, autoimmune, and genetic neuromuscular diseases. In some conditions, disease-modifying management exists, but in the absence of such intervention, supportive respiratory therapy can improve quality of life and survival. In this review, we discuss the differential diagnosis and diagnostic approach to chronic neuromuscular respiratory weakness. We also review the clinical assessment and management of respiratory failure in these conditions.

Colchicine Myopathy: A Case Series Including Muscle MRI and ABCB1 Polymorphism Data

“…The onset can occur within weeks of initiating colchicine therapy, particularly in those with renal impairment (6). Significant variability can occur in the clinical presentation (7), and colchicine myopathy has also been reported with respiratory muscle weakness (8), making this rare medication side-effect a consideration in a broad range of neuromuscular differential diagnoses (9, 10). The diagnosis is typically confirmed with the finding of a vacuolar myopathy on muscle biopsy (11).…”

Digital Biomarkers for Neuromuscular Disorders: A Systematic Scoping Review

“…In addition, in some NMD diseases, respiratory failure may be accompanied by respiratory muscle or bulbar muscle weakness, which means poor prognosis [ 26 ]. Respiratory muscle weakness can occur with acute or subacute onset or as a chronic progressive presentation, typically starting with nocturnal symptoms, leading to difficulty detecting it in the early stage; furthermore, bulbar weakness increases the risk of aspiration so that early intervention, including nasogastric tube insertion, is required.…”

“…Respiratory muscle weakness can occur with acute or subacute onset or as a chronic progressive presentation, typically starting with nocturnal symptoms, leading to difficulty detecting it in the early stage; furthermore, bulbar weakness increases the risk of aspiration so that early intervention, including nasogastric tube insertion, is required. However, at an early stage, it may not be recognized as quickly because it manifests as voice change or slurred speech [ 26 ]. Therefore, if these early symptoms that are easy to miss can be detected through digital biomarkers, the medical professionals will more accurately figure the severity or course of the disease by verifying the patient’s daily living and providing effective interventions at the proper time.…”

ERS International Congress, Madrid, 2019: highlights from the Sleep and Clinical Physiology Assembly

“…Indeed, lung stiffness can be caused by progressive loss of inspiratory and expiratory muscle function, decrease in vital capacity, progressive atelectasis, and alteration of tissue mechanics, whilst the elastic properties of the lungs are closely related to chest wall compliance [53,54]. Pathophysiologic progression in NMD predisposes to progressive respiratory morbidity; however, there are some proactive interventions that can attenuate the deterioration [55,56]. Four therapeutic interventions against the NMD consequences were demonstrated including airway clearance, mechanical ventilation support, stabilisation of the chest wall and spine, and lung volume recruitment manoeuvres.…”