RT Generic
T1 Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease
A1 Boentert, Matthias
A1 Prigent, Helene
A1 Vardi, Katalin
A1 Jones, Harrison N.
A1 Mellies, Uwe
A1 Simonds, Anita K.
A1 Wenninger, Stephan
A1 Cortes, Emilia Barrot
A1 Confalonieri, Marco
K1 neuromuscular disorders
K1 Pompe disease
K1 respiratory muscle weakness
K1 mechanical ventilation
K1 cough assistance
K1 Polysomnographic findings
K1 Lung-function
K1 Training rmt
K1 Failure
K1 Predictors
K1 Symptoms
K1 Hypoventilation
K1 Progression
K1 Hypercapnia
K1 Prevalence
AB 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.
PB Mdpi
SN 1422-0067
YR 2016
FD 2016-10-01
LK http://hdl.handle.net/10668/19272
UL http://hdl.handle.net/10668/19272
LA en
DS RISalud
RD Apr 9, 2025