Benign muscular dystrophy with contractures: a new syndrome?

Acta Neurol Scand. 1986 Apr;73(4):439-43. doi: 10.1111/j.1600-0404.1986.tb03302.x.

Abstract

Three patients are described with muscular dystrophy and contractures. Although this disorder bears similarities to Emery-Dreifuss disease and variants previously described, absence of cardiomyopathy is a distinguishing feature. Electrodiagnostic testing and muscle biopsy are consistent with a myopathy. An autosomal dominant pattern of inheritance is suspected, but the possibility of a Y-to-Y transmission cannot be completely excluded.

Publication types

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

MeSH terms

  • Adult
  • Biopsy
  • Contracture / complications*
  • Contracture / genetics
  • Contracture / pathology
  • Humans
  • Male
  • Muscles / pathology
  • Muscular Dystrophies / classification
  • Muscular Dystrophies / complications*
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / pathology
  • Pedigree
  • Syndrome