Emery-Dreifuss syndrome

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.

Publication types

  • Review

MeSH terms

  • Cardiomyopathies / genetics
  • Diagnosis, Differential
  • Genes, Dominant
  • Genetic Linkage
  • Humans
  • Male
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / etiology
  • Muscular Dystrophies / genetics*
  • Prognosis
  • Syndrome
  • X Chromosome