Practical recommendations for diagnosis and management of respiratory muscle weakness in late-onset Pompe disease

File(s)

Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease.pdf (1006.04 KB)

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Author(s)

Boentert, M

Prigent, H

Vardi, K

Jones, HN

Mellies, U

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Type

Journal Article

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.

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Date Issued

2016-10-17

Date Acceptance

2016-10-10

Citation

International Journal of Molecular Sciences, 2016, 17 (10)

URI

http://hdl.handle.net/10044/1/49742

DOI

https://www.dx.doi.org/10.3390/ijms17101735

ISSN

1422-0067

Publisher

MDPI AG

Journal / Book Title

International Journal of Molecular Sciences

Volume

17

Issue

10

Copyright Statement

© 2016 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access
article distributed under the terms and conditions of the Creative Commons Attribution (CC-BY) license http://creativecommons.org/licenses/by/4.0/).

Identifier

http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000387768300055&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202

Subjects

Science & Technology

Life Sciences & Biomedicine

Physical Sciences

Biochemistry & Molecular Biology

Chemistry, Multidisciplinary

Chemistry

neuromuscular disorders

Pompe disease

respiratory muscle weakness

mechanical ventilation

cough assistance

DUCHENNE MUSCULAR-DYSTROPHY

OBSTRUCTIVE SLEEP-APNEA

POLYSOMNOGRAPHIC FINDINGS

NEUROMUSCULAR-JUNCTION

PULMONARY-FUNCTION

AIRWAY CLEARANCE

LUNG-FUNCTION

FAILURE

ADULTS

PREDICTORS

Publication Status

Published

Article Number

ARTN 1735