Emery A E
Medical School, University of Edinburgh.
J Med Genet. 1989 Oct;26(10):637-41. doi: 10.1136/jmg.26.10.637.
Emery-Dreifuss muscular dystrophy is characterised by the triad of (1) early contractures of the elbows, Achilles tendons, and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a humeroperoneal distribution in the early stages; and (3) a cardiomyopathy usually presenting as heart block. The early recognition of the condition is essential because the insertion of a cardiac pacemaker can be life saving. The disorder is usually inherited as an X linked recessive trait (linked to DNA markers around Xq28). However, occasionally it can be inherited as an autosomal dominant trait and there is an indication that this and the X linked form may in some cases have a neurogenic basis. For these reasons it has recently been proposed that the appellation 'Emery-Dreifuss syndrome' be used for this triad of symptoms and signs.
埃默里-德赖富斯肌营养不良症的特征为三联征：（1）肘部、跟腱和颈后肌肉早期出现挛缩；（2）早期缓慢进展的肌肉萎缩和无力，呈肱腓型分布；（3）通常表现为心脏传导阻滞的心肌病。早期识别该疾病至关重要，因为植入心脏起搏器可能挽救生命。该疾病通常作为X连锁隐性性状遗传（与Xq28周围的DNA标记相关）。然而，偶尔它也可作为常染色体显性性状遗传，并且有迹象表明，这种类型以及X连锁型在某些情况下可能有神经源性基础。基于这些原因，最近有人提议将“埃默里-德赖富斯综合征”这一称谓用于这种症状和体征三联征。
