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Quantitative vs qualitative muscle MRI: Imaging biomarker in patients with Oculopharyngeal Muscular Dystrophy (OPMD)

  • Gerd Melkus
    Correspondence
    Corresponding authors: Jodi Warman-Chardon; Marcos L. Sampaio; Gerd Melkus, ES08-1053 Carling Ave, Ottawa, ON, K1Y 4E9, Canada.
    Affiliations
    Department of Radiology, Radiation Oncology and Medical Physics, University of, Ottawa, Ottawa, ON, Canada

    Ottawa Hospital Research Institute, Ottawa, ON, Canada

    Department of Physics, Carleton University, Ottawa, ON, Canada
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  • Marcos L. Sampaio
    Correspondence
    Corresponding authors: Jodi Warman-Chardon; Marcos L. Sampaio; Gerd Melkus, ES08-1053 Carling Ave, Ottawa, ON, K1Y 4E9, Canada.
    Affiliations
    Department of Radiology, Radiation Oncology and Medical Physics, University of, Ottawa, Ottawa, ON, Canada

    Ottawa Hospital Research Institute, Ottawa, ON, Canada

    Faculty of Medicine /Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON, Canada
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  • Ian C. Smith
    Affiliations
    Ottawa Hospital Research Institute, Ottawa, ON, Canada
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  • Kawan S. Rakhra
    Affiliations
    Department of Radiology, Radiation Oncology and Medical Physics, University of, Ottawa, Ottawa, ON, Canada

    Ottawa Hospital Research Institute, Ottawa, ON, Canada

    Faculty of Medicine /Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON, Canada
    Search for articles by this author
  • Pierre R. Bourque
    Affiliations
    Ottawa Hospital Research Institute, Ottawa, ON, Canada

    Faculty of Medicine /Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON, Canada

    Department of Medicine (Neurology), The Ottawa Hospital/The University of Ottawa
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  • Ari Breiner
    Affiliations
    Ottawa Hospital Research Institute, Ottawa, ON, Canada

    Faculty of Medicine /Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON, Canada

    Department of Medicine (Neurology), The Ottawa Hospital/The University of Ottawa
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  • Jocelyn Zwicker
    Affiliations
    Faculty of Medicine /Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON, Canada

    Department of Medicine (Neurology), The Ottawa Hospital/The University of Ottawa
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  • Hanns Lochmüller
    Affiliations
    Ottawa Hospital Research Institute, Ottawa, ON, Canada

    Faculty of Medicine /Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON, Canada

    Department of Medicine (Neurology), The Ottawa Hospital/The University of Ottawa

    Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada
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  • Bernard Brais
    Affiliations
    Montreal Neurological Institute and Hospital, Genetics, McGill University, Montreal, Quebec, Canada
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  • Jodi Warman-Chardon
    Correspondence
    Corresponding authors: Jodi Warman-Chardon; Marcos L. Sampaio; Gerd Melkus, ES08-1053 Carling Ave, Ottawa, ON, K1Y 4E9, Canada.
    Affiliations
    Ottawa Hospital Research Institute, Ottawa, ON, Canada

    Faculty of Medicine /Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON, Canada

    Department of Medicine (Neurology), The Ottawa Hospital/The University of Ottawa

    Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada
    Search for articles by this author
Published:October 02, 2022DOI:https://doi.org/10.1016/j.nmd.2022.09.010

      Highlights

      • Sensitive biomarkers of OPMD progression are needed to expedite clinical trials.
      • OPMD was discernable from other muscular dystrophies using tongue fat fraction.
      • In OPMD, high tongue fat fraction was associated with swallowing difficulty.
      • Whole body quantitative MRI can provide valuable outcome measures for OPMD.

      Abstract

      Oculopharyngeal muscular dystrophy (OPMD) is a genetic muscle disease causing ptosis, severe swallowing difficulties and progressive limb weakness, although atypical presentations may be difficult to diagnose. Sensitive biomarkers of disease progression in OPMD are needed to enable more effective clinical trials. This study was designed to test the feasibility of using MRI to aid OPMD diagnosis and monitor OPMD progression. Twenty-five subjects with Dixon whole-body muscle MRI were enrolled: 10 patients with genetically confirmed OPMD, 10 patients with non-OPMD muscular dystrophies, and 5 controls. Using the MRI Dixon technique, muscle fat replacement was evaluated in the tongue, serratus anterior, lumbar paraspinal, adductor magnus, and soleus muscles using quantitative and semi-quantitative rating methods. Changes were compared with muscle strength testing, dysphagia severity, use of gait aids, and presence of dysarthria. Quantitative MRI scores of muscle fat replacement in the tongue could differentiate OPMD from other muscular dystrophies and from controls. Moreover, fat fraction in the tongue correlated with clinical severity of dysphagia. This study provides preliminary support for the use of Dixon-based quantitative MRI images as outcome measures for monitoring disease progression in clinical trials and provides rationale for future prospective studies aimed at methodological refinement and covariate identification.

      Keywords

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