强直性肌营养不良临床特点分析

Analysis of clinical features of myotonic dystrophy

摘要:

目的 分析强直性肌营养不良(DM)的临床特点,以提高对DM疾病的认识及诊断水平。方法 对21例DM患者的临床资料进行回顾性总结与分析。结果 21例患者均为慢性起病,以双手无力,活动不灵活起病多见,其中5例有家族史,部分病例伴有心脏、眼部、内分泌及中枢神经系统等其他多系统损害。19例行肌电图检查提示肌源性损害,其中16例发现有肌强直电位。10例行肌活检,主要表现为部分肌纤维萎缩,变性、坏死肌纤维,核内移及肌浆块形成,部分萎缩纤维内可见无结构胞浆体。1例强直性肌营养不良蛋白激酶(DMPK)基因CTG重复序列分析发现拷贝数超过正常范围。结论 DM是一种主要累及肌肉系统,以肌强直、肌无力和肌萎缩为主要临床表现并伴有多系统损害的疾病。综合评估多系统损害并结合肌肉的电生理学及病理学检查,有助于提高对DM的认识;在有条件的医疗机构可以开展DM基因诊断,对DM确诊很有意义。

Abstract:

Objective To analyze the clinical features of myotonic dystrophy (DM) and to improve the understanding and diagnosis of DM.Methods The clinical data of 21 patients with DM were retrospectively summarized to analyze the clinical manifestations and the results of electromyography/electroneurography, pathological examination, laboratory testing, imaging examination, and genetic testing.Results All patients had insidious onset of disease, with hand weakness and stiffness as initial symptoms. Five cases had a family history. Damages of the heart, eyes, endocrine system, central nervous system, and other systems were found in some cases. Electromyography in 19 cases revealed myopathic changes in all of them and myotonic potentials in 16 of them. Muscle biopsy in 10 cases disclosed atrophy of some muscle fibers, degeneration and necrosis of muscle fibers, centrally placed nuclei and formation of sarcoplasmic mass, and accumulation of amorphous cytoplasmic bodies in some atrophic muscle fibers. One case had an increased copy number of CTG repeats in myotonic dystrophy protein kinase(DMPK) gene.Conclusions The main clinical manifestations of DM include progressive myotonia, muscle weakness, and myotrophy, as well as multisystem damages. Comprehensive clinical evaluation combined with electromyography/electroneurography and pathological examination would be helpful for the understanding of DM. Genetic testing, which is valuable for the confirmed diagnosis of DM, can be performed if possible.