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Imaging respiratory muscle quality and function in Duchenne muscular dystrophy

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Abstract

Objective

Duchenne muscular dystrophy (DMD) is characterized by damage to muscles including the muscles involved in respiration. Dystrophic muscles become weak and infiltrated with fatty tissue, resulting in progressive respiratory impairment. The objective of this study was to assess respiratory muscle quality and function in DMD using magnetic resonance imaging and to determine the relationship to clinical respiratory function.

Methods

Individuals with DMD (n = 36) and unaffected controls (n = 12) participated in this cross sectional magnetic resonance imaging study. Participants underwent dynamic imaging of the thorax to assess diaphragm and chest wall mobility and chemical shift-encoded imaging of the chest and abdomen to determine fatty infiltration of the accessory respiratory muscles. Additionally, clinical pulmonary function measures were obtained.

Results

Thoracic cavity area was decreased in individuals with DMD compared to controls during tidal and maximal breathing. Individuals with DMD had reduced chest wall movement in the anterior–posterior direction during maximal inspirations and expirations, but diaphragm descent during maximal inspirations (normalized to height) was only decreased in a subset of individuals with maximal inspiratory pressures less than 60% predicted. Muscle fat fraction was elevated in all three expiratory muscles assessed (p < 0.001), and the degree of fatty infiltration correlated with percent predicted maximal expiratory pressures (r =  − 0.70, p < 0.001). The intercostal muscles demonstrated minimal visible fatty infiltration; however, this analysis was qualitative and resolution limited.

Interpretation

This magnetic resonance imaging investigation of diaphragm movement, chest wall movement, and accessory respiratory muscle fatty infiltration provides new insights into the relationship between disease progression and clinical respiratory function.

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Acknowledgements

This work was supported by Failed Regeneration in the Muscular Dystrophies: Inflammation, Fibrosis, and Fat (National Institute of Arthritis and Musculoskeletal and Skin Diseases: U54 AR052646) and Magnetic Resonance Imaging and Biomarkers in Muscular Dystrophy (National Institute of Arthritis and Musculoskeletal and Skin Diseases: R01 AR056973). The first author was supported by Interdisciplinary Training in Rehabilitation and Neuromuscular Plasticity (National Institute of Child Health and Human Development: T32 HD043730). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. A portion of this work was performed at the McKnight Brain Institute at the National High Magnetic Field Laboratory’s AMRIS Facility, which is supported by National Science Foundation Cooperative Agreement no. DMR-1157490 and the state of Florida. We thank each of the participants and their families for their enthusiasm for the study. Also, we thank the AMRIS MRI technologists for assistance acquiring data.

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Authors and Affiliations

  1. Department of Physical Therapy, University of Florida, Gainesville, FL, USA

    Alison M. Barnard, Donovan J. Lott, Abhinandan Batra, William T. Triplett, Sean C. Forbes, Samuel L. Riehl, Rebecca J. Willcocks, Barbara K. Smith & Krista Vandenborne

  2. Department of Physiology and Functional Genomics, University of Florida, Gainesville, FL, USA

    Alison M. Barnard & Glenn A. Walter

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  1. Alison M. Barnard
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Correspondence to Glenn A. Walter.

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On behalf of all authors, the corresponding author states that there is no conflict of interest.

Ethical standards

All human research was approved by the University of Florida Institutional Review Board in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. All persons gave informed consent prior to inclusion in the study.

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Barnard, A.M., Lott, D.J., Batra, A. et al. Imaging respiratory muscle quality and function in Duchenne muscular dystrophy. J Neurol 266, 2752–2763 (2019). https://doi.org/10.1007/s00415-019-09481-z

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  • DOI: https://doi.org/10.1007/s00415-019-09481-z

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