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

Gerd Melkus; Marcos L Sampaio; Ian C Smith; Kawan S Rakhra; Pierre R Bourque; Ari Breiner; Jocelyn Zwicker; Hanns Lochmüller; Bernard Brais; Jodi Warman-Chardon

doi:10.1016/j.nmd.2022.09.010

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

Neuromuscul Disord. 2023 Jan;33(1):24-31. doi: 10.1016/j.nmd.2022.09.010. Epub 2022 Oct 2.

Authors

Affiliations

¹ 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.
² 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.
³ Ottawa Hospital Research Institute, Ottawa, ON, Canada.
⁴ 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.
⁵ 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.
⁶ 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.
⁷ Montreal Neurological Institute and Hospital, Genetics, McGill University, Montreal, Quebec, Canada.
⁸ 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. Electronic address: jwarman@toh.ca.

PMID: 36462961
DOI: 10.1016/j.nmd.2022.09.010

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: Disease progression; Intramuscular fat; Magnetic resonance imaging; Neuromuscular disorders; Semi-quantitative.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Biomarkers
Deglutition Disorders* / diagnostic imaging
Deglutition Disorders* / etiology
Disease Progression
Humans
Magnetic Resonance Imaging
Muscle, Skeletal / diagnostic imaging
Muscular Dystrophy, Oculopharyngeal* / diagnosis
Prospective Studies

Substances

Biomarkers