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.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.