J Genet Med.  2016 Dec;13(2):105-110. 10.5734/JGM.2016.13.2.105.

Myotonic dystrophy diagnosed during the perinatal period: A case series report

Affiliations
  • 1Department of Obstetrics and Gynaecology, Hankook General Hospital, Jeju, Korea.
  • 2Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine, Seoul, Korea. hmryu2012@naver.com
  • 3Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynaecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine, Seoul, Korea.
  • 4Department of Pediatrics, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine, Seoul, Korea.

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.

Keyword

Myotonic dystrophy; Congenital; Pregnancy; Genetic counseling; Postpartum period
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