%0 Journal Article
%T Rare case of dystrophia myotonica with mega cisterna magna
%A Hetal Pandya
%A Jitendra Lakhani
%A Jigar Mehta
%A Jimmy Dodhania
%J Australasian Medical Journal
%D 2012
%I The Australasian Medical Journal pty ltd.
%X Myotonic dystrophy is also known as dystrophia myotonica (DM). The condition is composed of at least two clinical disorders with overlapping phenotypes and distinct molecular genetic defects: myotonic dystrophy type 1, the classic disease originally described by Steinert, and myotonic dystrophy type 2, also called proximal myotonic myopathy (PROMM). Mega cisterna magna is thought to be an anatomic variant with no clinical significance. We report a rare case of type 1 dystrophia myotonica in combination with mega cisterna magna.
%K Dystrophia myotonica
%K mega cisterna magna
%K congenital myotonic dystrophy
%U http://www.amj.net.au/index.php?journal=AMJ&page=article&op=view&path%5B%5D=1000&path%5B%5D=923