Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Indian J Pathol Microbiol. 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21.
Electron microscopy (EM) has a substantial role in the diagnosis of skeletal muscle disorders. The ultrastructural changes can be observed in muscle fibers and other components of the muscle tissue. EM serves as a confirmatory tool where the diagnosis is already established by enzyme histochemistry staining. Although it is indispensable in the diagnosis of rare forms of congenital myopathies not appreciated by light microscope, such as cylindrical spiral myopathy, zebra body myopathy, fingerprint body myopathy, and intranuclear rod myopathy, in cases not subjected to histochemical staining, it is required for definitive diagnosis in certain groups of muscle disorders, which includes congenital myopathies, metabolic myopathies in particular mitochondrial myopathies and glycogenosis, and in vacuolar myopathies. It does not have diagnostic implications in muscular dystrophies and neurogenic disorders. In the recent past, despite the availability of advanced diagnostic techniques, electron microscopy continues to play a vital role in the diagnosis of skeletal muscle disorders. This review gives an account of ultrastructural features of skeletal muscle disorders, the role of EM in the diagnosis, and its limitations.
电子显微镜（EM）在肌肉骨骼疾病的诊断中具有重要作用。超微结构的变化可以在肌肉纤维和肌肉组织的其他成分中观察到。EM 作为一种确认工具，在酶组织化学染色已经确立诊断的情况下使用。虽然在通过光镜未被识别的罕见先天性肌病（如圆柱螺旋肌病、斑马体肌病、指纹体肌病和核内杆状肌病）的诊断中不可或缺，但在未进行组织化学染色的情况下，对于某些肌肉疾病组的明确诊断是必需的，这些疾病包括先天性肌病、代谢性肌病特别是线粒体肌病和糖原贮积症，以及空泡性肌病。它在肌营养不良症和神经源性疾病中没有诊断意义。在最近，尽管有先进的诊断技术，电子显微镜在肌肉骨骼疾病的诊断中仍然起着至关重要的作用。这篇综述介绍了肌肉骨骼疾病的超微结构特征、EM 在诊断中的作用及其局限性。
