强直性肌营养不良临床及遗传特点分析

Clinical and hereditary analysis in a pedigree with myotonic dystrophy

目的探讨强直性肌营养不良(DM)的临床及遗传特点,以提高对DM疾病的认识和诊断水平。方法对一DM家系确诊的5例患者临床资料进行收集及回顾性分析,包括患者基本资料、临床表现、血液生化、心电图、肌电图及肌肉活检等。收集完整的家系资料进行遗传分析。结果 5例DM患者临床均为慢性病程,以肌强直、肌无力、肌萎缩为主要表现,伴有眼部、心脏、内分泌和生殖、神经等多系统损害如白内障、心律失常、脱发、阳痿、习惯性流产、智能减退等,血清肌酶轻度增高或正常,肌电图具有特征性肌强直放电和肌源性损害,肌肉活检呈非特异性肌病特征。家系中男女均有发病,从第2代到第4代均有患者,每一代患病人数≥50%,发病年龄逐代提前。通过遗传分析判断出致病基因来源。结论 DM是一种以肌强直、肌无力、肌萎缩为主要表现的多系统损害的遗传性疾病,临床表现复杂多样。遗传方式符合常染色体显性遗传特点,具有遗传早现现象。识别DM的临床特点有助于提高对其认识和诊断水平。

Objective To summarize the clinical and hereditary features of myotonic dystrophy(DM) in order to improve its diagnosis.Methods The clinical data of five cases in a pedigree with DM were summarized and analyzed retrospectively.Demographic data,clinical manifestations,laboratory findings,electrocardiogram(ECG),electromyogram(EMG) and pathological examination of muscle biopsies were included.Particular data of the pedigree were obtained,and hereditary analysis was carried out.Results DM progressed slowly in the five cases.Myotonia,muscle weakness and muscle atrophy were the most common symptoms,with other multisystematic disorders such as cataract,arrhythmias,alopecia,gonadal atrophy,erectile dysfunction,cognitive impairment,hypersomnia,and so on.The level of serum creatine kinase was mildly high or normal.Spontaneous myotonic discharge and myogenic damage were shown on EMG.Pathological examination of muscle biopsies showed myogenic damage.Patients consisting of both male and female were from the second generation to the fourth.More than half the cases suffered in a generation.Suffering age was younger and younger with generations.Source of abnormal gene was determined by pedigree analysis.Conclusion DM is a hereditary disease,which is characterized by myotonia,muscle weakness and muscle atrophy.In addition,other multisystematic disorders are also common.The clinical manifestation of DM is complex.The occurrence of DM is consistent with the autosomal dominant inheritance,and the anticipation phenomena are common in the pedigree.Recognizing clinical and hereditary features of DM helps to improve the diagnosis of it.