Emery-Dreifuss muscular dystrophy

Ann Neurol. 1979 Feb;5(2):111-7. doi: 10.1002/ana.410050203.


A man had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows. At age 25 he developed permanent atrial paralysis, and a cardiac pacemaker was inserted. Although this case was sporadic, most others have been transmitted as an X-linked recessive trait. Mixed patterns in electromyography and muscle histology have caused nosological confusion, but the unique clinical signs seem to define a distinct form of muscular dystrophy, warranting the designation "emery-Dreifuss" type.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Electromyography
  • Humans
  • Male
  • Muscles / enzymology
  • Muscles / pathology
  • Muscles / physiopathology
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / enzymology
  • Muscular Dystrophies / pathology
  • Muscular Dystrophies / physiopathology
  • Muscular Dystrophy, Emery-Dreifuss
  • Syndrome