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Int. J. Mol. Sci. 2016, 17(10), 1735;

Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease

Department of Sleep Medicine and Neuromuscular Disorders, Münster University Hospital, Münster 48149, Germany
Physiology Department and Neuromuscular Home Ventilation Unit, Raymond Poincaré University Hospital, Garches 92380, France
Respiratory Rehabilitation and Sleep Center, Törökbálint Chest Hospital, Törökbálint 2045, Hungary
Department of Surgery, Duke University, Division of Speech Pathology & Audiology, Durham, NC 27710, USA
Department of Pediatric Pulmonology and Sleep Medicine, University of Duisburg-Essen, Children’s Hospital, Essen 45147, Germany
Academic and Clinical Department of Sleep and Breathing, Royal Brompton & Harefield NHS Foundation Trust, London SW3 6NP, UK
Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich 80336, Germany
Medical-Surgical Unit of Respiratory Diseases, University Hospital Virgen del Rocio, Seville 41013, Spain
Department of Pulmonology, University Hospital of Cattinara, Trieste 34149, Italy
Author to whom correspondence should be addressed.
Academic Editors: Ritva Tikkanen and William Chi-shing Cho
Received: 28 August 2016 / Revised: 29 September 2016 / Accepted: 10 October 2016 / Published: 17 October 2016
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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’ 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. View Full-Text
Keywords: neuromuscular disorders; Pompe disease; respiratory muscle weakness; mechanical ventilation; cough assistance neuromuscular disorders; Pompe disease; respiratory muscle weakness; mechanical ventilation; cough assistance

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Boentert, M.; Prigent, H.; Várdi, K.; Jones, H.N.; Mellies, U.; Simonds, A.K.; Wenninger, S.; Barrot Cortés, E.; Confalonieri, M. Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease. Int. J. Mol. Sci. 2016, 17, 1735.

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