Neuen-Jacob E
Institut für Neuropathologie, Universitätsklinikum Düsseldorf, Deutschland.
Pathologe. 2009 Sep;30(5):357-64. doi: 10.1007/s00292-009-1168-6.
The diagnosis "muscular dystrophy" without analysis of the underlying gene defect is nowadays obsolete. With the discovery and cloning of cytoskeleton proteins and intermediate filaments in the muscle fiber membrane, the sarcoplasm and the nucleus which are essential for the normal muscle fiber function, the classification of muscular dystrophies has dramatically improved. Muscular dystrophies are a group of clinically and genetically heterogeneous disorders. By means of immunohistochemistry and molecular genetics more than 40 different disease forms can be distinguished, which are characterised by distinct protein defects or defined gene loci and can be related to typical phenotypes. It is noteworthy that muscular dystrophies may be associated with cardiomyopathy with increased risk of sudden cardiac death. Thus, diagnosis and treatment require experienced investigators and clinicians and regular cardiologic follow-ups, preferably in a specialised muscle center.
如今，不分析潜在基因缺陷就诊断为“肌肉萎缩症”已过时。随着对肌纤维膜、肌浆和细胞核中对正常肌纤维功能至关重要的细胞骨架蛋白和中间丝的发现与克隆，肌肉萎缩症的分类有了显著改善。肌肉萎缩症是一组临床和基因异质性疾病。通过免疫组织化学和分子遗传学方法，可以区分出40多种不同的疾病形式，它们的特征是不同的蛋白质缺陷或特定的基因位点，并且与典型的表型相关。值得注意的是，肌肉萎缩症可能与心肌病相关，会增加心源性猝死的风险。因此，诊断和治疗需要经验丰富的研究人员和临床医生，以及定期的心脏科随访，最好是在专门的肌肉疾病中心进行。
