title: Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease.
abstract: 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.
authors.affiliation: Department of Sleep Medicine and Neuromuscular Disorders, Münster University Hospital, Münster 48149, Germany. matthias.boentert@ukmuenster.de.
authors.forename: Matthias
authors.initials: M
authors.lastname: Boentert
authors.affiliation: Physiology Department and Neuromuscular Home Ventilation Unit, Raymond Poincaré University Hospital, Garches 92380, France. helene.prigent@aphp.fr.
authors.forename: Hélène
authors.initials: H
authors.lastname: Prigent
authors.affiliation: Respiratory Rehabilitation and Sleep Center, Törökbálint Chest Hospital, Törökbálint 2045, Hungary. katalinvardi@gmail.com.
authors.forename: Katalin
authors.initials: K
authors.lastname: Várdi
authors.affiliation: Department of Surgery, Duke University, Division of Speech Pathology & Audiology, Durham, NC 27710, USA. harrison.jones@duke.edu.
authors.forename: Harrison N
authors.initials: HN
authors.lastname: Jones
authors.affiliation: Department of Pediatric Pulmonology and Sleep Medicine, University of Duisburg-Essen, Children's Hospital, Essen 45147, Germany. uwe.mellies@uk-essen.de.
authors.forename: Uwe
authors.initials: U
authors.lastname: Mellies
authors.affiliation: Academic and Clinical Department of Sleep and Breathing, Royal Brompton & Harefield NHS Foundation Trust, London SW3 6NP, UK. a.simonds@rbht.nhs.uk.
authors.forename: Anita K
authors.initials: AK
authors.lastname: Simonds
authors.affiliation: Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich 80336, Germany. stephan.wenninger@med.uni-muenchen.de.
authors.forename: Stephan
authors.initials: S
authors.lastname: Wenninger
authors.affiliation: Medical-Surgical Unit of Respiratory Diseases, University Hospital Virgen del Rocio, Seville 41013, Spain. emilia.barrot.sspa@juntadeandalucia.es.
authors.forename: Emilia
authors.initials: E
authors.lastname: Barrot Cortés
authors.affiliation: Department of Pulmonology, University Hospital of Cattinara, Trieste 34149, Italy. marco.confalonieri@aots.sanita.fvg.it.
authors.forename: Marco
authors.initials: M
authors.lastname: Confalonieri
mesh_terms: D000328:Adult; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000473:pathology* / Q000628:therapy; D006801:Humans; D007223:Infant; D018908:Muscle Weakness / Q000473:pathology* / Q000628:therapy*; D012129:Respiratory Function Tests; D012131:Respiratory Insufficiency / Q000628:therapy*; D012132:Respiratory Muscles / Q000473:pathology*; D011795:Surveys and Questionnaires
keywords: Pompe disease; cough assistance; mechanical ventilation; neuromuscular disorders; respiratory muscle weakness