强直性肌营养不良症临床与病理学特点

发布时间：2018-12-08 12:19

【摘要】：目的探讨强直性肌营养不良症(DM)临床和病理学特点。方法回顾性分析25例DM患者的临床资料。结果 25例DM患者中男女发病比为1.27∶1,发病年龄集中10~40岁。慢性病程,中位病程为(8±12)年,有家族史者占45.83%。主要以四肢无力、双下肢无力、双手握拳后不能立即伸开和双上肢无力为首发症状,主要体征依次为肢体肌力下降、双手握拳后不能立即伸开、叩击性肌强直和肌肉萎缩。DM患者常合并其他多系统损害;多数患者血清CK轻至中度升高;EMG检查显示肌强直电位。DM的主要肌肉病理特征为肌纤维大小不一,核内移、核袋形成、肌膜核增多、肌源性群组化现象和主要累及Ⅰ型肌纤维的萎缩。DM患者肌肉病理免疫组织化学染色显示膜蛋白表达正常。其中8例患者经过知情同意后抽取外周血进行DMPK基因检测,结果显示均为DMPK基因突变,CTG重复次数均大于50,确诊为DM1型。结论 DM患者男性多见,多有遗传家族史。临床表现复杂多样,除肌强直、肌无力和肌萎缩最常见外,尚可伴其他多系统损害。EMG对该病的诊断较肌酶具有更大的价值。肌肉病理具有特异性的表现,免疫组化染色可作为鉴别诊断的依据,对本病的诊断价值不大。基因检测可确诊。
[Abstract]:Objective to investigate the clinical and pathological features of myotonic dystrophy (DM). Methods the clinical data of 25 patients with DM were analyzed retrospectively. Results the incidence ratio of male and female in 25 patients with DM was 1.27: 1, and the age of onset was 1040 years old. The median course of chronic disease was (8 卤12) years, with family history accounting for 45.83 years. The main symptoms were weakness of limbs, weakness of both lower limbs, inability to extend immediately after both hands clenched and weakness of both upper limbs. The main signs in turn were decreased muscle strength of the limbs, and no immediate extension after the hands clenched their fists. Percussion myotonia and muscular atrophy. Patients with DM are often associated with other multiple system damage; Most patients' serum CK increased slightly to moderately. EMG showed that myotonic potential. The main muscle pathological features of DM were different size of muscle fibers, intranuclear migration, formation of nuclear pouch and increase of myomembranous nucleus. The expression of membrane protein was normal in DM patients. DMPK gene was detected in peripheral blood of 8 patients with informed consent. The results showed that all patients had DMPK gene mutation, CTG repeat times were more than 50, and they were diagnosed as DM1 type. Conclusion male patients with DM are more common and have hereditary family history. The clinical manifestations were complicated and varied, except for myotonia, myasthenia and atrophy, which could be accompanied by other multi-system damage. EMG has more value in the diagnosis of the disease than muscle enzyme. The myopathology has the specific manifestation, the immunohistochemical staining can be used as the basis for differential diagnosis, but it is of little value in the diagnosis of the disease. Gene testing can be confirmed.
【作者单位】：河北医科大学第二医院神经内科;沧州市人民医院;
【基金】：河北省医学适用技术跟踪项目(G2015013)
【分类号】：R746.2

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