Koltzenburg Martin, Yousry Tarek
UCL Institute of Neurology, UCL, London, UK.
Curr Opin Neurol. 2007 Oct;20(5):595-9. doi: 10.1097/WCO.0b013e3282efc322.
Clinical investigations of neuromuscular diseases routinely involve genetic, neurophysiological, biochemical and histopathological methods. More recently, various magnetic resonance imaging techniques have become available and extended the differential diagnostic possibilities.
Using magnetic resonance imaging it is now possible to quantify muscle volume in selected body regions and measure wasting and exercise-induced muscle hypertrophy. Evidence is forthcoming that many hereditary myopathies are characterized by distinct patterns of muscle degeneration and this helps in selecting other relevant genetic and biochemical investigations. With diffusion-weighted tensor imaging it is possible to identify the microstructure of normal and diseased muscles. Arterial spin labelling is an emerging non-invasive tool to assess blood-flow changes in individual muscles. Magnetic resonance spectroscopy now provides an exciting opportunity to visualize metabolic changes and the pathophysiologically relevant cellular perturbations in muscle channelopathies affecting the muscle-specific sodium-channel isoform Na(v)1.4.
Magnetic resonance imaging supplements investigations for the differential diagnosis of neuromuscular diseases. An advantage over routine neurophysiological or histopathological methods is that they are operator-independent, non-invasive and painless. Magnetic resonance imaging also has the advantage of providing a lasting detailed topographical picture of regional variations and allows robust measurements of muscle volume and various functional parameters.
神经肌肉疾病的临床研究通常涉及遗传学、神经生理学、生物化学和组织病理学方法。最近，各种磁共振成像技术已经出现，并扩展了鉴别诊断的可能性。
利用磁共振成像现在可以量化选定身体区域的肌肉体积，并测量肌肉萎缩和运动诱导的肌肉肥大。越来越多的证据表明，许多遗传性肌病具有独特的肌肉变性模式，这有助于选择其他相关的遗传学和生物化学研究。通过扩散加权张量成像，可以识别正常和患病肌肉的微观结构。动脉自旋标记是一种新兴的非侵入性工具，用于评估单个肌肉中的血流变化。磁共振波谱现在提供了一个令人兴奋的机会，以可视化代谢变化以及在影响肌肉特异性钠通道亚型Na(v)1.4的肌肉通道病中与病理生理相关的细胞扰动。
磁共振成像补充了神经肌肉疾病鉴别诊断的研究。与常规神经生理学或组织病理学方法相比，其优势在于它们不依赖操作人员、非侵入性且无痛。磁共振成像还具有提供区域变化的持久详细地形图的优势，并允许对肌肉体积和各种功能参数进行可靠测量。
