Myotonic dystrophy diagnosed during the perinatal period : A case series report
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...
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| Veröffentlicht in: | Journal of genetic medicine 2016-12, Vol.13 (2), p.105-110 |
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| container_title | Journal of genetic medicine |
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| creator | Shin, You Jung Kim, Do Jin Park, So Yeon Chung, Jin Hoon Lee, Yeon Kyung Ryu, Hyun Mee |
| description | 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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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. 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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.</abstract><pub>The Korean Society of Medical Genetics</pub><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| source | KoreaMed Synapse; KoreaMed Open Access |
| title | Myotonic dystrophy diagnosed during the perinatal period : A case series report |
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