Myotonic dystrophy diagnosed during the perinatal period: A case series report.
10.5734/JGM.2016.13.2.105
- Author:
You Jung SHIN
1
;
Do Jin KIM
;
So Yeon PARK
;
Jin Hoon CHUNG
;
Yeon Kyung LEE
;
Hyun Mee RYU
Author Information
1. Department of Obstetrics and Gynaecology, Hankook General Hospital, Jeju, Korea.
- Publication Type:Case Report
- Keywords:
Myotonic dystrophy;
Congenital;
Pregnancy;
Genetic counseling;
Postpartum period
- MeSH:
Alleles;
Genetic Counseling;
Humans;
Infant, Newborn;
Mortality;
Mothers;
Motor Activity;
Muscle Hypotonia;
Myotonic Dystrophy*;
Parents;
Parturition;
Postpartum Period;
Pregnancy;
Premature Birth;
Prenatal Diagnosis
- From:Journal of Genetic Medicine
2016;13(2):105-110
- CountryRepublic of Korea
- Language:English
-
Abstract:
Congenital myotonic dystrophy (CMD) which is transmitted in an autosomal-dominant manner, can also be observed in newborns born to asymptomatic parents who have a myotonic dystrophy type 1 or premutation allele, especially from the mother. A mother with myotonic dystrophy could be subfertile and the pregnancy could be complicated with the risk of a preterm birth. Newborns with CMD may demonstrate symptoms such as hypotonia and poor motor activity, as well as respiratory and feeding difficulties. Additionally, CMD has a high mortality rate at birth. Detection of the signs and symptoms during pregnancy is helpful for a prenatal diagnosis of CMD in cases where the family history is not known.
