Lenard H G, Goebel H H
Brain Dev. 1980;2(2):119-25.
A satisfactory nosological classification of all congenital myopathies without structural characteristics is not yet available. The term "congenital dystrophy" does not describe one but at least three disease states, of which the Fukuyama type and the Ullrich type are entities defined by clinical and morphological criteria. Some patients with nonprogressive dystrophic changes may show marked abnormalities in size and distribution of fiber types. "Congenital fiber type disproportions" has been defined as a pattern with many small type I fibers and few large type II fibers. A similar pattern can be found in the rigid spine syndrome. Other abnormal histometric patterns (e.g. predominance of small and large type I fibers, type II fiber atrophy in combination with congestive cardiomyopathy) are not infrequently encountered. The application of a prefabricated diagnostic label should be reserved for cases fulfilling strictly defined morphological and clinical definitions. In the rest, objective description of findings may still be the only appropriate diagnostic approach.
目前尚无对所有无结构特征的先天性肌病进行令人满意的疾病分类。“先天性肌营养不良”一词并非描述一种疾病，而是至少三种疾病状态，其中福山型和乌尔里希型是根据临床和形态学标准定义的实体。一些非进行性营养不良性改变的患者可能在肌纤维类型的大小和分布上表现出明显异常。“先天性肌纤维类型比例失调”被定义为一种有许多小型I型纤维和少量大型II型纤维的模式。在僵硬脊柱综合征中也可发现类似模式。其他异常的组织测量模式（如小型和大型I型纤维占优势、II型纤维萎缩合并充血性心肌病）也并不少见。对于符合严格定义的形态学和临床定义的病例，才可使用预制的诊断标签。其余情况下，对检查结果进行客观描述可能仍是唯一合适的诊断方法。
