Pompe disease is a glycogen storage disease caused by a deficiency in acid α-glucosidase (GAA), a hydrolase necessary for the degradation of lysosomal glycogen. This deficiency in GAA results in muscle and neuronal glycogen accumulation, which causes respiratory insufficiency. Pompe disease mouse models provide a means of assessing respiratory pathology and are important for pre-clinical studies of novel therapies that aim to treat respiratory dysfunction and improve quality of life. This review aims to compile and summarize existing manuscripts that characterize the respiratory phenotype of Pompe mouse models. Manuscripts included in this review were selected utilizing specific search terms and exclusion criteria. Analysis of these findings demonstrate that Pompe disease mouse models have respiratory physiological defects as well as pathologies in the diaphragm, tongue, higher-order respiratory control centers, phrenic and hypoglossal motor nuclei, phrenic and hypoglossal nerves, neuromuscular junctions, and airway smooth muscle. Overall, the culmination of these pathologies contributes to severe respiratory dysfunction, underscoring the importance of characterizing the respiratory phenotype while developing effective therapies for patients.

Materials and Methods experimental animals. All mice were approved by the Duke University Institutional Animal Care and Use Committee (IACUC) under protocol A233-171-10. All experiments were performed in accordance with relevant guidelines and regulations. All protocols involving mice were approved by Duke University IACUC. C57Bl6/J, wildtype, and C57Bl/10ScSn-Dmd mdx /J (mdx), mice were obtained from the Jackson Laboratory and housed at the Duke University Division Laboratory Animal Resources.

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