罕见的伴有巨大枕大池的强直性肌营养不良病例。

Rare case of dystrophia myotonica with mega cisterna magna.

作者信息

Pandya Hetal, Lakhani Jitendra, Mehta Jigar, Dodhania Jimmy

机构信息

Professor.

出版信息

Australas Med J. 2012;5(4):213-6. doi: 10.4066/AMJ.2012.1000. Epub 2012 Apr 30.

DOI:10.4066/AMJ.2012.1000

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3395281/

Abstract

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.

摘要

强直性肌营养不良也被称为肌强直性营养不良（DM）。该病症至少由两种具有重叠表型和不同分子遗传缺陷的临床疾病组成：1型强直性肌营养不良，即最初由施泰纳特描述的经典疾病，以及2型强直性肌营养不良，也称为近端肌强直性肌病（PROMM）。巨大枕大池被认为是一种无临床意义的解剖变异。我们报告了一例罕见的1型肌强直性营养不良合并巨大枕大池的病例。

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