眼咽肌营养不良
医学
吞咽困难
咽肌
肌营养不良
面肩肱型肌营养不良
肌肉无力
生物标志物
强直性营养不良
舌头
内科学
放射科
吞咽
物理医学与康复
病理
物理疗法
生物化学
化学
作者
Gerd Melkus,Marcos Loreto Sampaio,Ian D. Smith,Kawan Rakhra,Pierre R. Bourque,Ari Breiner,Jocelyn Zwicker,Hanns Lochmüller,Bernard Brais,Jodi Warman‐Chardon
标识
DOI:10.1016/j.nmd.2022.09.010
摘要
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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