A Case of Congenital Myotonic Dystrophy Diagnosed by Molecular Genetics.

Kim,  So Hee; Kim,  Eun Young; Park,  Sang Kee; Choi,  Sang Joon; Lim,  Sung Chul

Case Report

Journal of the Korean Society of Neonatology 2006;13(1):194-198.
Published online May 1, 2006.

A Case of Congenital Myotonic Dystrophy Diagnosed by Molecular Genetics.

So Hee Kim, Eun Young Kim, Sang Kee Park, Sang Joon Choi, Sung Chul Lim

¹Department of Pediatrics, College of Medicine Chosun University, Gwangju, Korea. skpark@chosun.ac.kr
²Department of Obstetrics and Gynecology, College of Medicine Chosun University, Gwangju, Korea.
³Department of Pathology, College of Medicine Chosun University, Gwangju, Korea.

Abstract

Congenital myotonic dystrophy is a progressive degenerative disease of the neuromuscular system, usually inherited in an autosomal dominant fashion. Affected infant presents with varying degrees of respiratory failure, often necessitating immediate and prolonged ventilatory assistance. An expression of a CTG (cystosine-thymine-guanine) repeat in the 3'-unsaturated region of a protein kinase gene contributes to the development of myotonic dystrophy. We experienced a case of congenital myotonic dystrophy in a male neonate with respiratory difficulty, hypotonia and difficulty in sucking and swallowing. His mother had mild manifestations of adult type myotonic dystrophy. PCR analysis revealed that CTG repeats in the myotonic dystrophy gene of the neonate and the mother were about 800 and 100 respectively.

Key Words: Congenital myotonic dystrophy; CTG repeat; Neonate