临床神经病学杂志2017，Vol.30Issue(4)：281-284,4.
强直性肌营养不良症临床与病理学特点
Clinical and pathological features of myotonic dystrophy
摘要
Abstract
Objective To explore the clinical and pathological features of myotonic dystrophy(DM).Methods The clinical data of 25 DM patients were analyzed retrospectively.Results In the 25 DM cases, male and female incidence ratio was 1.27∶1.The age of onset in DM was concentrating in the presence of 10-40 years old.DM was a chronic course with a median duration of (8±12) years.There was accounting for 45.83% in family history.The initial symptoms mainly manifested as limb weakness, lower extremity weakness, making a fist with both hands could not immediately stretch and upper limbs weakness.The order of the common signs was decline of limbs muscle strength, making a fist with both hands could not immediately stretch, percussion myotonia, muscle atrophy.DM patients in this group with other multisystem damage.Laboratory examination showed the majority of patients with mild to moderate elevations of serum creatine kinase.EMG showed myotonia potential in all DM patients.The main muscle pathology features of DM were different muscle fibers size, nuclear transfer, nuclear bag formation, increase in the muscle membrane nucleus, myogenic grouping phenomenon and major involvement of type Ⅰ muscle fiber atrophy.Immunohistochemical staining showed that membrane protein were normal.The group of 8 cases of patients after informed consent were extracted from the peripheral blood for DMPK gene detection.The results showed that 8 patients were DMPK gene mutation, in which CTG repeat number was greater than 50, diagnosed as type DM1.Conclusions DM onset is more common in men.A genetic family history is common for DM, whose clinical manifestations are complex and diverse, in addition to myotonia, muscle weakness and atrophy in the most common, which often associates with other multi-system damage.EMG is of more great value than CK in the diagnosis of DM.Muscle pathology is specific performance, immunohistochemical staining can be used as the basis for the differential diagnosis, but has little diagnostic value of this disease.Genetic testing can confirm the diagnosis for DM.关键词
强直性肌营养不良症/临床特点/肌电图/肌肉病理/基因Key words
myotonic dystrophy/clinical features/electromyography/muscle pathology/genet分类
医药卫生引用本文复制引用
侯志刚,宋学琴,吴红然,张亚,陈雪晓,崔红颖,卢珊,李远,汤锦..强直性肌营养不良症临床与病理学特点[J].临床神经病学杂志,2017,30(4):281-284,4.基金项目
河北省医学适用技术跟踪项目(G2015013) （G2015013）
