中国医科大学学报

中国医科大学学报

中国医科大学学报 ›› 2016, Vol. 45 ›› Issue (2): 97–100.doi: 10.12007/j.issn.0258-4646.2016.02.001

• 论著 •    下一篇

强直性肌营养不良1型患者的眼部症状分析

阎雪晶1,欧阳嶷1,何志义1,崔小雪1,朱华倩1,史铭宇2,王欣玲2   

  1. 中国医科大学1. 附属第一医院神经内科,沈阳110001;2. 附属第四医院眼科,沈阳110005
  • 收稿日期:2015-11-02 出版日期:2016-02-27 发布日期:2016-01-21
  • 通讯作者: 欧阳嶷 E-mail:oyyxmx@hotmail.com
  • 作者简介:阎雪晶(1991 -),女,硕士研究生.
  • 基金资助:
    国家自然科学基金青年基金(81100879)

Ocular Symptoms Analysis of Myotonic Dystrophy Type 1 Patients

YAN Xue-jing1,OUYANG Yi1,HE Zhi-yi1,CUI Xiao-xue1,ZHU Hua-qian1,SHI Ming-yu2,WANG Xin-ling2   

  1. 1. Department of Neurology,The First Hospital,China Medical University,Shenyang 110001,China;2. Department of Ophthalmology,The Forth Hospital,China Medical University,Shenyang110005,China
  • Received:2015-11-02 Online:2016-02-27 Published:2016-01-21

摘要: 目的 分析5个家系强直性肌营养不良1型(DM1)患者眼部表现,总结其临床特点,为早期诊断提供依据。方法 总结5个家系已确诊的患者进行强直性肌营养不良蛋白激酶(DMPK)基因CTG 重复次数,归纳患者临床症状及特点。结果 患者均表现为肌无力、肌强直;患者均患白内障,有视物模糊、上睑下垂等表现;肌电图提示肌源性损害,肌强直电位;裂隙灯显微镜及眼科超声生物显微镜提示周边后囊前皮质片状混浊;4例患者DMPK 基因CTG 重复>50次,2例DMPK 基因CTG 重复50次。结论 眼部症状是DM1的重要表现之一,其严重程度与CTG重复序列数之间并无明显关联。

关键词: 强直性肌营养不良1型, 眼部症状, 白内障, 基因检测

Abstract: Objective To summarize the clinical features of ocular symptoms analysis in 5 families of myotonic dystrophy type 1(DM1)patients,so as to increase the reorganization of DM1 for clinician and provide the basis for early diagnosis. Methods Five genetically diagnosed DM1 subjects were enrolled in the study,and the number of trinucleotide CTG in the region of myotonic dystrophy protein kinase(DMPK)and the researchof clinical symptoms were determined,then the clinical manifestation were summarized. Results All the patients were manifested with myasthenia and myotonia,cataract,blurred vision and ptosis;Results of electromyography showed muscle damage and myotonic potential;Results of slit-lamp microscope and ophthalmic ultrasound biomicroscope showed patchy opacities of the anterior cortex of the posterior capsule;the number of CTG fragment of 4 patients exceeded 50,and the other 2 were 50. Conclusion Ocular symptom is one of the most important manifestations of DM1;there is no clear correlation between the severity of DM1 and number of sequences CTG.

Key words: myotonic dystrophy type 1, ocular symptom, cataract, gene test

中图分类号: 

  • R746.2
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