EMERY-DREIFUSS SYNDROME
EMERY-DREIFUSS SYNDROME
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DOI：
10.1136/jmg.26.10.637
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发表时间：
1989-10-01
影响因子：
4
通讯作者：
EMERY, AEH
中科院分区：
文献类型：
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作者：
EMERY, AEH
Emery-Dreifuss肌营养不良症的特征为三联征：（1）肘、跟腱和颈后肌的早期挛缩;（2）早期阶段缓慢进行性肌肉萎缩和无力，伴肱骨腓神经分布;（3）心肌病，通常表现为心脏传导阻滞。早期识别的条件是必不可少的，因为心脏起搏器的插入可以挽救生命。这种疾病通常作为X连锁隐性性状遗传（与Xq 28周围的DNA标记连锁）。然而，偶尔它可以作为一个常染色体显性遗传性状，有迹象表明，这和X连锁的形式可能在某些情况下有神经基础。由于这些原因，最近有人提议将“埃默里-德赖富斯综合征”这一名称用于这三种症状和体征。
Emery-Dreifuss muscular dystrophy is characterised by the triad (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.