强直性肌营养不良症一家系4例临床分析

Family Analysis of Four Patients with Myotonic Dystrophy

目的探讨强直性肌营养不良症(DM)的临床特点。方法对我院2008年收治的1例确诊的DM患者及其家系中另3例确诊DM患者的临床资料进行分析。结果 4例患者,男性2例,女性2例,均隐袭起病,以肌强直、肌无力、肌萎缩为主要表现,伴有内分泌和生殖系统、心脏、眼睛等多系统损害,肌强直放电和肌源性损害是DM的主要肌电图特征。结论 DM是一组以肌无力、肌强直和肌萎缩为特点的多系统受累的常染色体显性遗传病,临床表现复杂多样,阳性家族史和肌电图对诊断有重要意义。

Objective To investigate the clinical characteristics of myotonic dystrophy（DM）.Methods The clinical data were analyzed for one patient who was hospitalized in 2008 due to the diagnosis of DM and another three DM patients from the family of the above patient.Results The four patients consisted of two males and two females,showing an insidious onset of disease.The symptoms manifested mainly as muscle rigidity,atony,and atrophy.The comorbidities included multiple systemic damages,such as endocrine and reproductive organs,heart,and eyes.DM was characteristic of myotonic discharge and myogenic damage on electromyography.Conclusion DM is a autosomal dominant hereditary disorder that involves multiple systems and is characterized by muscle atony,rigidity,and atrophy,showing a variety of clinical manifestations.A positive family history and electromyography are helpful for the diagnosis of DM.