Whole-body magnetic resonance imaging has emerged as a useful imaging tool in diagnosing and characterizing the progression of myopathies and muscular dystrophies. Whole-body MRI indications and diagnostic efficacy are becoming better defined with the increasing number of cases, publications and discussions within multidisciplinary working groups. Advanced Whole-body MRI protocols are rapid, lower cost, and well-tolerated by patients. Accurate interpretation of muscle Whole-body MRI requires a detailed knowledge of muscle anatomy and differential pattern of involvement in muscle diseases. With the surge in recently identified novel genetic myopathies, Whole-body MRI will become increasingly useful for phenotypic validation of genetic variants of unknown significance. In addition, Whole-body MRI will be progressively used as a biomarker for disease progression and quantify response to therapy with the emergence of novel disease modifying treatments. This review outlines Whole-body MRI indications and updates refined protocols and provides a comprehensive overview of the diagnostic utility and suggested methodology of Whole-body MRI for pediatric and adult patients with muscle diseases.

中文翻译：

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遗传性肌病的 MYO-MRI 诊断方案

全身磁共振成像已成为诊断和表征肌病和肌营养不良症进展的有用成像工具。随着多学科工作组中病例、出版物和讨论数量的增加，全身 MRI 适应症和诊断功效的定义越来越清晰。先进的全身 MRI 协议快速、成本较低且患者耐受性良好。肌肉的准确解释全身 MRI 需要详细了解肌肉解剖结构和肌肉疾病的不同模式。随着最近发现的新型遗传性肌病的激增，全身 MRI 对未知意义的遗传变异的表型验证将变得越来越有用。此外，随着新型疾病改善疗法的出现，全身 MRI 将逐渐用作疾病进展的生物标志物，并量化对治疗的反应。本综述概述了全身 MRI 的适应症并更新了改进的方案，并全面概述了全身 MRI 对患有肌肉疾病的儿童和成人患者的诊断效用和建议方法。