伴认知功能障碍的强直性肌营养不良Ⅰ型  

Myotonic muscular type Ⅰ dystrophy with cognitive impairment

作　　者：王宁[1] 张朝阳 韩叙 宋学琴[1] 季光[1] Wang Ning;Zhang Zhaoyang;Han Xu;Song Xueqin;Ji Guang(Department of Neurology,the Second Hospital of Hebei Medical University,Shijiazhuang 050000,China)

机构地区：[1]河北医科大学第二医院神经内科,石家庄050000 [2]隆尧县医院神经内科

出　　处：《脑与神经疾病杂志》2021年第12期773-777,共5页Journal of Brain and Nervous Diseases

基　　金：河北省医学适用技术跟踪项目(G-2015013)。

摘　　要：目的研究伴认知功能障碍的强直性肌营养不良1型(myotonic muscular dystrophy type1,DM1)的临床表现及影像学特点。方法收集分析2例伴有认知功能障碍的DM1患者的肌电图、头颅MRI、MMSE量表、MOCA量表、基因检测结果等。结果2例患者均中年起病,缓慢进展,临床均有肌无力,肌强直和肌萎缩,肌电图均显示被测上下肢肌肉可见大量肌强直样放电,有窄小电位。头颅MRI均显示双侧额顶岛叶、半卵圆中心、放射冠异常信号,例1头颅MRI还显示双侧颞部及双侧外侧裂内侧异常信号。例1MMSE量表评分5分,MOCA量表评分8分,患者认知域异常主要表现为语言能力和记忆力下降。例2MMSE量表评分24分,MOCA量表评分14分,患者认知域异常主要表现为注意力降低。基因检测证实为2例均为DM1。结论DM1患者除神经肌肉病变外可伴认知功能障碍。Objective To study the clinical manifestations and imaging features of myotonic muscular dystrophy type 1 with cognitive impairment.Methods The results of MMSE scale,MOCA scale,cranial MRI,electromyography and gene detection were measured in the two DM1 patients with cognitive impairment.Results Both patients began to develop with myasthenia gravis,myotonia and muscular atrophy in middle age and progressed slowly,Electromyography showed that a large number of myotonic discharges and narrow potentials could be seen in the muscles of the upper and lower extremities.Cranial MRI showed abnormal signals in bilateral frontoparietal lobe,semiovale center and radiation crown.Besides,cranial MRI of Case 1 showed abnormal signals in bilateral temporal region and medial side of bilateral lateral fissure.In case 1,The scores of MMSE scale and MOCA scale were 5 and8,respectively.The language ability and memory of the patients decreased.In case 2,the scores of MMSE scale and MOCA scale were 24 and 14 respectively,and the attention of the patients decreased.Gene detection confirmed myotonic dystrophy type 1.Conclusion Patients with myotonic dystrophy may have cognitive impairment in addition to neuromuscular lesions,attention should be paid in clinical diagnosis and treatment.

关 键 词：强直性肌营养不良Ⅰ型 认知障碍 白质病变 颞部病变 磁共振成像 

分 类 号：R744.9[医药卫生—神经病学与精神病学]