Emery-Dreifuss muscular dystrophy with unusual features

Muscle Nerve. 1993 Dec;16(12):1359-65. doi: 10.1002/mus.880161214.


Two families with Emery-Dreifuss muscular dystrophy (EMD) are described. Several unusual features for EMD are emphasized. One of the patients had severe neuromuscular disability with inability to walk during early childhood. This patient also had mild bifacial paresis. His brothers had the typical slow progression of EMD. In some of the patients, muscle weakness distribution was more widespread than has usually been reported, with prominent involvement of finger extensors. It is suggested that there is a wide phenotypic spectrum in EMD. In both families, the disease segregated with markers spanning the EMD locus in Xq28.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Biopsy
  • Child
  • Chromosome Mapping
  • Diseases in Twins
  • Female
  • Humans
  • Male
  • Middle Aged
  • Muscles / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Muscular Dystrophies / physiopathology*
  • Pedigree
  • Twins, Monozygotic
  • X Chromosome*