{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T05:45:25Z","timestamp":1787809525127,"version":"build-2784847793"},"reference-count":80,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2016,10,17]],"date-time":"2016-10-17T00:00:00Z","timestamp":1476662400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Sanofi-Genzyme"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more rapidly than overall neurological disability. Sleep-disordered breathing, daytime hypercapnia, and the need for nocturnal ventilation eventually evolve in most patients. Additionally, respiratory muscle weakness leads to decreased cough and impaired airway clearance, increasing the risk of acute respiratory illness. Progressive respiratory muscle weakness is a major cause of morbidity and mortality in late-onset Pompe disease even if enzyme replacement therapy has been established. Practical knowledge of how to detect, monitor and manage respiratory muscle involvement is crucial for optimal patient care. A multidisciplinary approach combining the expertise of neurologists, pulmonologists, and intensive care specialists is needed. Based on the authors\u2019 own experience in over 200 patients, this article conveys expert recommendations for the diagnosis and management of respiratory muscle weakness and its sequelae in late-onset Pompe disease.<\/jats:p>","DOI":"10.3390\/ijms17101735","type":"journal-article","created":{"date-parts":[[2016,10,17]],"date-time":"2016-10-17T10:33:16Z","timestamp":1476700396000},"page":"1735","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":53,"title":["Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease"],"prefix":"10.3390","volume":"17","author":[{"given":"Matthias","family":"Boentert","sequence":"first","affiliation":[{"name":"Department of Sleep Medicine and Neuromuscular Disorders, M\u00fcnster University Hospital, M\u00fcnster 48149, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Prigent","sequence":"additional","affiliation":[{"name":"Physiology Department and Neuromuscular Home Ventilation Unit, Raymond Poincar\u00e9 University Hospital, Garches 92380, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katalin","family":"V\u00e1rdi","sequence":"additional","affiliation":[{"name":"Respiratory Rehabilitation and Sleep Center, T\u00f6r\u00f6kb\u00e1lint Chest Hospital, T\u00f6r\u00f6kb\u00e1lint 2045, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harrison","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Surgery, Duke University, Division of Speech Pathology &amp; Audiology, Durham, NC 27710, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe","family":"Mellies","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pulmonology and Sleep Medicine, University of Duisburg-Essen, Children\u2019s Hospital, Essen 45147, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Simonds","sequence":"additional","affiliation":[{"name":"Academic and Clinical Department of Sleep and Breathing, Royal Brompton &amp; Harefield NHS Foundation Trust, London SW3 6NP, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Wenninger","sequence":"additional","affiliation":[{"name":"Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich 80336, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia","family":"Barrot Cort\u00e9s","sequence":"additional","affiliation":[{"name":"Medical-Surgical Unit of Respiratory Diseases, University Hospital Virgen del Rocio, Seville 41013, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4791-768X","authenticated-orcid":false,"given":"Marco","family":"Confalonieri","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, University Hospital of Cattinara, Trieste 34149, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2016,10,17]]},"reference":[{"key":"ref_1","first-page":"497","article-title":"Clinical guidelines for late-onset Pompe disease","volume":"54","author":"Barrot","year":"2012","journal-title":"Rev. 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