Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw.
Neurol Neurochir Pol. 2009 Sep-Oct;43(5):415-20.
The authors present the results of a 4-year follow-up of patients with Emery-Dreifuss dystrophy (EDMD) included in a project on laminopathies. The focus of the discussion is on the clinical and genetic characteristics, and the classification of the two forms of Emery-Dreifuss dystrophy [i.e. associated with either emerinopathy (EDMD1) or laminopathy (EDMD2)].
The study includes 37 patients from 12 families with EDMD, 28 having emerinopathy and 9 with laminopathy. On the basis of findings from clinical examination and laboratory tests (24-hour ECG monitoring, echocardiography, histological and immunohistochemical studies of muscle), the authors describe phenotypes of the two forms of Emery-Dreifuss dystrophy, the natural course of the disease, and a possible severe cardiovascular involvement which may lead to severe cardiac complications and sudden death. The patients with EDMD were treated mainly by cardiologists. Besides symptomatic management, implantation of a cardiac pacemaker or cardioverter-defibrillator is often required.
The intrafamilial and interfamilial variability of laminopathies is discussed in relation to interactions between nuclear proteins. Since the EDMD carrier state in females is associated with cardiac symptoms (without skeletal muscle involvement), systematic cardiological supervision is indicated. Likewise, there are certain patients presenting a typical EDMD phenotype in which no mutations in the EMD or LMNA genes can be confirmed. This may indicate that an Emery-Dreifuss-like dystrophy could also be associated with mutations in other genes.
作者介绍了纳入层状蛋白病项目的 Emery-Dreifuss 肌营养不良症（EDMD）患者 4 年随访的结果。讨论的重点是两种 Emery-Dreifuss 肌营养不良症的临床和遗传特征，以及分类[即与 emerin 病（EDMD1）或层状蛋白病（EDMD2）相关]。
本研究包括 12 个 EDMD 家系的 37 名患者，其中 28 名患有 emerin 病，9 名患有层状蛋白病。根据临床检查和实验室检查（24 小时心电图监测、超声心动图、肌肉组织学和免疫组织化学研究）的结果，作者描述了两种 Emery-Dreifuss 肌营养不良症的表型、疾病的自然病程以及可能严重的心血管受累，这可能导致严重的心脏并发症和猝死。EDMD 患者主要由心脏病专家治疗。除了对症治疗外，通常还需要植入心脏起搏器或除颤器。
讨论了层状蛋白病的家系内和家系间变异性与核蛋白之间的相互作用有关。由于女性的 EDMD 携带者状态与心脏症状有关（无骨骼肌肉受累），因此需要进行系统的心脏监测。同样，也有一些患者表现出典型的 EDMD 表型，但不能证实 EMD 或 LMNA 基因的突变。这可能表明类似于 Emery-Dreifuss 的肌营养不良症也可能与其他基因突变有关。
