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Int J Mol Sci. 2016 Oct 17;17(10). pii: E1735.

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

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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.


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.


Pompe disease; cough assistance; mechanical ventilation; neuromuscular disorders; respiratory muscle weakness

[Indexed for MEDLINE]
Free PMC Article

Conflict of interest statement

Conflicts of InterestMatthias Boentert has received speaker honoraria from Genzyme GmbH, Neu-Isenburg, Germany, and Genzyme Corporation, a Sanofi Company. Hélène Prigent received speaker honoraria and travel grants from Genzyme Corporation. Harrison N. Jones has received research support and speaker honoraria from Genzyme Corporation. Katalin Várdi, Marco Confalonieri, Uwe Mellies, Anita K. Simonds, Stephan Wenninger, and Emilia Barrot Cortés declare no conflict of interest.

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