Myotonic dystrophy diagnosed during the perinatal period: A case series report
Journal of Genetic Medicine
; : 105-110, 2016.
Article
in En
| WPRIM
| ID: wpr-152748
Responsible library:
WPRO
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.
Key words
Full text:
1
Database:
WPRIM
Main subject:
Parents
/
Prenatal Diagnosis
/
Mortality
/
Parturition
/
Premature Birth
/
Postpartum Period
/
Alleles
/
Genetic Counseling
/
Mothers
/
Motor Activity
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
/
Newborn
/
Pregnancy
Language:
En
Journal:
Journal of Genetic Medicine
Year:
2016
Document type:
Article