PT  - JOURNAL ARTICLE
AU  - A E Emery
TI  - Emery-Dreifuss syndrome.
AID  - 10.1136/jmg.26.10.637
DP  - 1989 Oct 01
TA  - Journal of Medical Genetics
PG  - 637--641
VI  - 26
IP  - 10
4099  - http://jmg.bmj.com/content/26/10/637.short
4100  - http://jmg.bmj.com/content/26/10/637.full
SO  - J Med Genet1989 Oct 01; 26
AB  - 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.