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KMID : 1189120160130020105
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대한의학유전학회지
2016 Volume.13 No. 2 p.105 ~ p.110
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Myotonic dystrophy diagnosed during the perinatal period: A case series report
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Shin You-Jung
Kim Do-Jin
Park So-Yeon
Chung Jin-Hoon
Lee Yeon-Kyung
Ryu Hyun-Mee
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Abstract
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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.
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KEYWORD
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Myotonic dystrophy, Congenital, , Pregnancy, Genetic counseling, Postpartum period
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