Rare case of dystrophia myotonica with mega cisterna magna

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...

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Bibliographic Details
Published in:Australasian medical journal 2012-01, Vol.5 (4), p.213-216
Main Authors: Pandya, Hetal, Lakhani, Jitendra, Mehta, Jigar, Dodhania, Jimmy
Format: Article
Language:English
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Case Report
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Summary: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.
ISSN:1836-1935
1836-1935
DOI:10.4066/AMJ.2012.1000