Pillers De-Ann M, Von Bergen Nicholas H
Division of Neonatology and Newborn Medicine, Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USA.
Division of Cardiology, Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USA.
Appl Clin Genet. 2016 Feb 24;9:27-32. doi: 10.2147/TACG.S75028. eCollection 2016.
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of scapulohumeroperoneal muscle weakness, joint contractures, and cardiac defects that include arrhythmias and dilated cardiomyopathy. Although there is a defining group of clinical findings, the proteins responsible and their underlying gene defects leading to EDMD are varied. A common aspect of the gene defects is their involvement in, or with, the nuclear envelope. Treatment approaches are largely based on clinical symptoms. The genetic diversity of EDMD predicts that a cure will ultimately depend upon the individual's defect at the gene level, making this an ideal candidate for a precision medicine approach.
埃默里-德赖富斯肌营养不良症（EDMD）的特征是肩胛肱腓肌无力、关节挛缩和心脏缺陷（包括心律失常和扩张型心肌病）这一临床三联征。尽管有一组明确的临床发现，但导致EDMD的相关蛋白质及其潜在基因缺陷各不相同。基因缺陷的一个共同方面是它们与核膜有关或参与其中。治疗方法主要基于临床症状。EDMD的基因多样性预示着治愈最终将取决于个体在基因水平上的缺陷，这使其成为精准医学方法的理想候选对象。
