Congenital myotonic dystrophy with asymptomatic mother

Indian Pediatr. 2011 Jul;48(7):565-7.

Abstract

Myotonic dystrophy is an autosomal dominant neuromuscular disorder characterised by extreme pleiotropism and variability in disease expression. A congenital form is rare and is observed in infants born to symptomatic mothers with multisystem involvement. We report a case of a neonate with congenital myotonic dystrophy born to an asymptomatic mother.

Publication types

  • Case Reports

MeSH terms

  • Blotting, Southern
  • Electromyography
  • Fathers
  • Female
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Male
  • Mothers
  • Myotonic Dystrophy / diagnosis*
  • Myotonic Dystrophy / genetics*