Management of Myotonia Congenita in Pregnancy

Stacy M Yadava
2014 Journal of Womens Health Issues and Care  
Myotonia congenita is a rare autosomal recessive disorder of skeletal muscle. Affected individuals experience periods of prolonged muscle contraction due to dysfunction of the CLC-1 chloride ion. These prolonged muscle contractions can interfere with normal labor and delivery. The stress associated with delivery put women at increased risk of myotonic crisis, a debilitating state during which the muscles cannot relax. There is little published on the management of women with myotonia congenita
more » ... myotonia congenita during pregnancy and delivery. Here we examine the case of a gravid female with myotonia congenita, discuss the risks associated with delivery and how to reduce risk to provide a safe delivery for these women. Additionally, we identify a novel mutation associated with the condition.
doi:10.4172/2325-9795.1000157 fatcat:bftohvmqwfbbhpiilv4olx325u