强直性肌营养不良1型患者的眼部症状分析

Ocular Symptoms Analysis of Myotonic Dystrophy Type 1 Patients

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。

Objective To stmlmarize 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 research of 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 electmmyography showed muscle damage and myotonic potential ; results of slit-lamp mi- crescope and ophthalmic ultrasound biomicrescopo showed patchy opacities of the anterior cortex of the posterior capsule ; the number of CTG tYag- ment of 4 patients exceeded 50, and the other 2 were 50. Conclusion Ocular symptom is one of the most important manifestations ofDM1 ; there is no clear correlation between the severity of DM1 and number of sequences CTG.