Congenital Myotonic Dystrophy Diagnosed in an Adolescent Period

J Korean Neurol Assoc > Volume 26(4); 2008 > Article

Journal of the Korean Neurological Association 2008;26(4): 383-386.

청소년기에 진단된 선천성 근육긴장성 이영양증

오정환, 이재영 이정석 최재철 강지훈 강사윤

제주대학교 의과대학 신경과학교실

Congenital Myotonic Dystrophy Diagnosed in an Adolescent Period

Jung-Hwan Oh

Department of neurology, College of Medicine, Cheju National University, Jeju, Korea

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. KeyWords:Congenital myotonic dystrophy

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