Congenital muscular dystrophy with neurological abnormalities: association with Hirschsprung disease

Am J Med Genet. 1993 Aug 1;47(1):37-40. doi: 10.1002/ajmg.1320470108.


We report on a baby girl with congenital muscular dystrophy (CMD) with neurological abnormalities ("CMD Plus" condition), who also had Hirschsprung disease. This association may indicate a category of congenital muscular dystrophy with involvement of the visceral nervous system. We propose that Hirschsprung disease be added to the list of anomalies pertaining to the "CMD Plus" array, and that CMD should be considered when Hirschsprung disease occurs with central nervous system anomalies.

Publication types

  • Case Reports

MeSH terms

  • Brain / abnormalities
  • Female
  • Hirschsprung Disease / complications*
  • Humans
  • Infant
  • Muscles / ultrastructure
  • Muscular Dystrophies / complications*
  • Muscular Dystrophies / congenital*