Congenital Myotonic Dystrophy Diagnosed in an Adolescent Period.
- Author:
Jung Hwan OH
1
;
Jae Yeong LEE
;
Jung Seok LEE
;
Jay Chol CHOI
;
Ji Hoon KANG
;
Sa Yoon KANG
Author Information
1. Department of neurology, College of Medicine, Cheju National University, Jeju, Korea. neurokang@cheju.ac.kr
- Publication Type:Case Report
- Keywords:
Congenital myotonic dystrophy
- MeSH:
Adolescent;
Chromosomes, Human, Pair 19;
Fetus;
Humans;
Infant, Newborn;
Mothers;
Myotonic Dystrophy;
Protein Kinases
- From:Journal of the Korean Neurological Association
2008;26(4):383-386
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Type 1 myotonic dystrophy (DM1) is an autosomal-dominant inherited disorder with multisystem involvement, caused by an abnormal expansion of CTG sequence of the dystrophia myotonica protein kinase (DMPK) gene on chromosome 19. Congenital myotonic dystrophy (CDM) is the most severe phenotypic form of DM1. CMD tends to be observed in congenitally affected fetus or neonates born to affected mothers. We report a patient confirmed as CDM during the adolescent period.
