title: Myotonic dystrophy in pregnancy: a report of two cases within one family.
abstract: myotonic dystrophy, also called the Curschmann-Steinert syndrome, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, muscle weakness and myotonia, which can affect both mother and child. Complications may arise during pregnancy, delivery, including anaesthetic problems, and in the neonatal period. During pregnancy hydramnion can be a first sign of the disease leading to premature labor and also muscle weakness and myotonia can aggravate complicating the course of delivery. The affected neonate may display severe hypotonia, facial diplegia and respiratory distress. The clinical diagnosis can be confirmed by direct DNA analysis in serum and in chorionvillus biopsy material. In this case report two sisters with myotonic dystrophy are described, their pregnancies, deliveries and the outcome of their affected babies.
authors.affiliation: Stichting Sophia Ziekenhuis, Zwolle, Netherlands.
authors.forename: J J
authors.initials: JJ
authors.lastname: Risseeuw
authors.forename: J H
authors.initials: JH
authors.lastname: Oudshoorn
authors.forename: P J
authors.initials: PJ
authors.lastname: van der Straaten
authors.forename: J C
authors.initials: JC
authors.lastname: Kuypers
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D009223:Myotonic Dystrophy / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011248:Pregnancy Complications / Q000209:etiology*