强直性肌营养不良一家系临床分析

目的 探讨强直性肌营养不良(DM) 的临床特点,以提高对该病的认识.方法 对一DM 家系确诊的5例患者的临床资料进行收集分析,包括患者基本资料、临床表现、肌电图及肌肉活检等.结果 5例DM 患者均为慢性病程,以肌强直、肌无力、肌萎缩为主要表现,伴眼部、心脏、内分泌和神经等多系统损害,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,肌肉活检具有相对特异性肌病特征.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,肌肉活检有助于明确诊断.

Analysis of a pedigree of the myotonic dystrophy

Objective To investigate the clinical features of myotonic dystrophy and improve the knowledge of the disease. Methods Clinical data of the five cases in a pedigree with DM were summarized and analyzed.The data included clinical manifestations,laboratory findings,electrocardiogram(ECG),electromyogram(EMG) and pathological examination of muscle biopsies. 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 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. Conclusion DM is a hereditary disease with complex clinical manifestation which is characterized by myotonia,muscle weakness and muscle atrophy accompanied with other multisystematic disorders.Muscle biopsy is helpful in improving the diagnosis of the disease.