Respiratory involvement in neuromuscular disorders. Issue 5 (October 2017)

• Record Type: Journal Article
• Authors: Boentert, Matthias; Wenninger, Stephan; Sansone, Valeria A.
• Is Part Of: Current opinion in neurology. Volume 30:Issue 5(2017:Oct.)
• Publication Date: 2017-10
• Subjects: amyotrophic lateral sclerosis -- muscular dystrophy -- neuromuscular disorders -- Pompe's disease -- spinal muscular atrophy -- ventilation; Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.805
• DOI: 10.1097/WCO.0000000000000470
• Languages: English
• ISSNs: 1473-6551

Abstract

Abstract : Purpose of review: In numerous neuromuscular disorders (NMDs), respiratory muscle weakness is present, and acute or chronic respiratory failure may evolve. Very often, respiratory involvement substantially adds to the burden of disease, impairs quality of life, or reduces life expectancy. This article summarizes new aspects of both diagnosis and management of respiratory muscle weakness in patients with NMDs. Recent findings: Drugs like deflazacort, ataluren, eteplirsen, and nusinersen are now approved treatments for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy, and others are on their way in NMDs. Although observing how innovative drugs will change the natural history of these diseases, including respiratory function over time, adequate symptomatic treatment remains meaningful and is strongly recommended. Physicians should systematically take respiratory involvement into account to improve patients' quality of life and prognosis. Summary: First, it is outlined in which subtypes of NMD respiratory muscle dysfunction is particularly relevant. Second, new developments regarding diagnostic procedures, including respiratory muscle strength testing, spirometry, and sleep studies, are covered. Third, this article gives an overview on current concepts of ventilatory support and management of secretions in patients with NMD.