Serratrice G, Guastalla B, Pellissier J F
CHU Timone, Marseille.
Rev Med Interne. 1988 Sep-Oct;9(4):365-8. doi: 10.1016/s0248-8663(88)80135-8.
Two new cases of Emery-Dreifuss dystrophy in two brothers are reported. Both shared common characteristics: X-linked inheritance, early contractures, scapulo-humeroperoneal muscle weakness and wasting, cardiac conduction abnormalities with permanent atrial paralysis. A review of the literature is presented. Genetically, the disease appears as a syndrome rather than an entity because of recently published cases with dominant autosomal inheritance. Finally, contractures and their relationship with myosclerosis, notably rigid spine syndrome, are discussed. Fibrosis could be the common feature of both cardiac and muscular abnormalities. It could explain the ambiguous results of electromyogram and muscle biopsy.
本文报告了两兄弟患埃默里-德赖富斯肌营养不良症的两例新病例。两人具有共同特征：X连锁遗传、早期挛缩、肩胛肱腓肌无力和萎缩、伴有永久性心房麻痹的心脏传导异常。并对文献进行了综述。从遗传学角度来看，由于最近发表的具有常染色体显性遗传的病例，该疾病似乎是一种综合征而非单一实体。最后，讨论了挛缩及其与肌硬化尤其是僵硬脊柱综合征的关系。纤维化可能是心脏和肌肉异常的共同特征。这可以解释肌电图和肌肉活检结果的不明确性。
