Ifergane G, Al-Sayed I, Birk O, Harel T, Wirguin I
Department of Neurology, Soroka Medical Center, Beer-Sheva, Israel.
Eur J Neurol. 2007 Mar;14(3):305-8. doi: 10.1111/j.1468-1331.2006.01657.x.
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked humero-peroneal muscular dystrophy associated with contractures and cardiomyopathy. In a 90 member family, we found 11 affected male individuals, three of whom displayed areflexia and neurogenic electromyographic changes. Muscle biopsy performed in one case demonstrated type grouping suggestive of a neurogenic disorder. These three individuals and another family member, who suffers from mild, static limb weakness but is clinically and genetically unaffected by EDMD showed an abnormal incremental response of over 100% to tetanic stimulation. In contrast, one affected family member showed myopathic features on needle electromyography and no definite pathology in repetitive stimulation studies. The diagnosis of EDMD was established by demonstrating a 1712_1713insTGGGC mutation in the emerin gene. This family apparently expresses co-morbidity of EDMD with an exceptionally mild form of pre-synaptic congenital myasthenic syndrome resembling the Lambert-Eaton myasthenic syndrome (LEMS). The superimposed pre-synaptic disorder may have contributed to the development of the neurogenic features demonstrated in these patients.
埃默里-德赖富斯肌营养不良症（EDMD）是一种与挛缩和心肌病相关的X连锁型肱腓型肌营养不良症。在一个由90名成员组成的家族中，我们发现了11名患病男性个体，其中3人表现出无反射和神经源性肌电图改变。对其中1例进行的肌肉活检显示有类型分组，提示为神经源性疾病。这3名个体以及另一名患有轻度、静态肢体无力但在临床和基因上未受EDMD影响的家族成员，对强直刺激的异常递增反应超过100%。相比之下，1名患病家族成员在针电极肌电图检查中显示出肌病特征，在重复刺激研究中未发现明确病变。通过在emerin基因中发现1712_1713insTGGGC突变，确立了EDMD的诊断。这个家族显然表现出EDMD与一种异常轻度的突触前先天性肌无力综合征（类似于兰伯特-伊顿肌无力综合征，LEMS）的共病情况。叠加的突触前疾病可能促成了这些患者所表现出的神经源性特征的发展。
