A Case of Congenital Myotonic Dystrophy Diagnosed by Molecular Genetics.
- Author:
So Hee KIM
1
;
Eun Young KIM
;
Sang Kee PARK
;
Sang Joon CHOI
;
Sung Chul LIM
Author Information
1. Department of Pediatrics, College of Medicine Chosun University, Gwangju, Korea. skpark@chosun.ac.kr
- Publication Type:Case Report
- Keywords:
Congenital myotonic dystrophy;
CTG repeat;
Neonate
- MeSH:
Adult;
Deglutition;
Humans;
Infant;
Infant, Newborn;
Male;
Molecular Biology*;
Mothers;
Muscle Hypotonia;
Myotonic Dystrophy*;
Polymerase Chain Reaction;
Protein Kinases;
Respiratory Insufficiency
- From:Journal of the Korean Society of Neonatology
2006;13(1):194-198
- CountryRepublic of Korea
- Language:Korean
-
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.
