AI Article Synopsis
- Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder characterized by symptoms like drooping eyelids, severe swallowing issues, and muscle weakness, making it hard to diagnose atypical cases.
- Researchers conducted a study using MRI to assess its effectiveness in diagnosing and tracking OPMD progression by evaluating muscle fat replacement in various muscles among patients with OPMD, other muscular dystrophies, and healthy controls.
- The results indicated that MRI could differentiate OPMD from other conditions based on fat replacement in the tongue, which also correlated with the severity of swallowing difficulties, suggesting MRI could be a useful tool for clinical trials in OPMD.
Article 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.
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| http://dx.doi.org/10.1016/j.nmd.2022.09.010 | DOI Listing |
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