Dynamic respiratory muscle function in late-onset Pompe disease

Smith, Barbara K.; Allen, Shannon E.; Mays, Samantha; Martin, A. Daniel; Byrne, Barry J.

doi:10.1038/s41598-019-54314-8

Cited by 8 publications

(7 citation statements)

References 54 publications

(66 reference statements)

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“…Respiratory dysfunction involves upper airway as well as respiratory muscle and motor neuron pathology. Similar to Pompe mice, patients with Pompe disease demonstrate respiratory pathophysiology and insufficiency, as well as upper airway pathology [74][75][76][77][78][79]. Furthermore, IPD and LOPD patients have reduced vital capacity [76,80,81], which is reminiscent of the reduced tidal volume during the respiratory challenge demonstrated by WBP in mice [51,62,63,71].…”

Section: Discussionmentioning

confidence: 99%

The Respiratory Phenotype of Pompe Disease Mouse Models

Fusco

McCall

Dhindsa

et al. 2020

IJMS

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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.

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Section: Discussionmentioning

confidence: 99%

The Respiratory Phenotype of Pompe Disease Mouse Models

Fusco

McCall

Dhindsa

et al. 2020

IJMS

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“…It has been proposed that diaphragm atrophy, which is often associated with reduced lung height and band‐like atelectasis, can be considered a hallmark of respiratory failure in LOPD patients 23–26 . To evaluate dynamic anatomic airway disorders in patients with LOPD who have received Myozyme, a recent study 27 performed dynamic respiratory muscle functional tests including dynamic kinematic MRI of the thorax. However, none of the examinations could provide real‐time dynamic images or could be performed for diagnosis and interventions at the same time.…”

Section: Discussionmentioning

confidence: 99%

Airway abnormalities and pulmonary complications in long‐term treated late‐onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy

Wang

Soong

Niu

et al. 2021

Pediatric Pulmonology

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This study evaluates the whole airway abnormalities of long-term treated late-onset Pompe disease (LOPD) patients, with interventions using the flexible bronchoscope (FB). As a retrospective study, we follow up with our five LOPD patients treated with Myozyme from 2012 to 2021 regularly, but with a focus on the whole airway abnormalities of these patients visualized through FB. The long-term clinical outcomes and relevant airway symptoms were assessed. Pulmonary function test and

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“…Diaphragm dysfunction could also be assessed by dynamic respiratory testing (57) as well as CT and MRI imaging (58,59). MRI data have demonstrated that the pattern of respiratory muscle weakness is predominantly diaphragmatic, with sparing of intercostal muscles, as measured by antero-posterior chest expansion (59).…”

Section: Investigating Respiratory Function In Lopdmentioning

confidence: 99%

Respiratory failure and sleep-disordered breathing in late-onset Pompe disease: a narrative review

et al. 2020

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Pompe disease, or glycogen storage disease type II (GSDII), or acid maltase deficiency, is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme acidalpha glucosidase (GAA). This leads to an accumulation of glycogen in smooth, skeletal and respiratory muscles, and cardiac myocytes. Depending upon the residual GAA activity, it manifests in one of two forms. Infantile onset Pompe disease (IOPD), caused by absent GAA, presents with cardiomyopathy, respiratory failure and/or muscle hypotonia within the first year of life (1). These patients are unlikely to survive beyond 18 months (2). Late-onset Pompe disease (LOPD), caused by reduced rather than absent GAA, presents with a milder form, any time from 1 year to adulthood. Although milder, LOPD is progressive and can lead to severe disability and respiratory insufficiency (3). In contrast to IOPD, which is characterized by severe cardiomyopathy, less than 10% of LOPD patients suffer

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Dynamic respiratory muscle function in late-onset Pompe disease

Cited by 8 publications

References 54 publications

The Respiratory Phenotype of Pompe Disease Mouse Models

The Respiratory Phenotype of Pompe Disease Mouse Models

Airway abnormalities and pulmonary complications in long‐term treated late‐onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy

Respiratory failure and sleep-disordered breathing in late-onset Pompe disease: a narrative review

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