BN Kim, YT Lee, IG Lee, JY Han

Abstract

Congenital myotonic dystrophy 1 (CDM1) is characterised by severe hypotonia with difficulty in swallowing and respiration, facial diplegia, and increased risk of prematurity. We report a neonate with CDM1 born to an asymptomatic mother after in vitro fertilisation. Molecular analysis for the cytosine-thymine-guanine (CTG) triplet related DM1 was carried out and revealed over 1,000 CTG repeats, which was consistent with the clinical impression of CDM1. Gene analysis was carried out on the proband's family. In this family, the expanded CTG repeats were transmitted maternally, and earlier age of onset and increasing severity of the disease occurred in following generations.