强直性肌营养不良1型患者临床特点分析

Clinical characteristics of patients with myotonic dystrophy type 1

目的分析和总结强直性肌营养不良1型(myotonic dystrophy type 1,DM1)患者的临床特点,以提高对该病复杂临床表现的认识水平。方法选取2009-2012年在作者医院收治并经分子诊断确诊为DM1的患者45例,回顾性分析其临床资料。结果 45例中27例有阳性家族史。首发症状以握拳后放松困难最常见(24/45)。肌强直、肌无力、肌萎缩的发生率分别为95.56%、93.33%、75.56%,主要以头面诸肌、颈肌、肢体远端受累明显。除骨骼肌外,DM1还可累及眼睛(晶状体)、心脏(主要为传导系统)、中枢神经系统、颅骨、内分泌、呼吸系统等,临床表现多样。结论典型的DM1为青中年隐袭起病,阳性家族史有助于诊断。肌强直以舌肌和大鱼际最敏感,叩击这两个部位有助于不典型肌强直症状的检出。骨骼肌以外,白内障发生率最高,对本病有一定的提示作用。男性早秃和斧头脸为本病突出的面部特征。对于怀疑DM1的患者,应及早开展遗传咨询。对于诊断DM1的患者,应全面评估并尽早处理多系统损害(尤其对于心脏和呼吸系统),同时进行定期随访复查。

Objective Clinical features of myotonic dystrophy type 1 （DM1） were analyzed and summarized, to improve the understanding of the diverse manifestations of DM1. Methods The clinical data of 45 patients who were diagnosed genetically as DM1 from 2009 to 2012 were studied retrospectively. Results There were 27 familial cases. Grip myotonia was the most common initial manifestation （24/45）. The incidence of myotonia, muscle weakness and amyotrophy involving muscles of face, neck and distal extremities preferentially were 95.56%, 93. 330//oo and 75.56% respectively. DM1 also affected eye （the lens）, heart （mainly the conduction system）, central nervous system, calvarium, endocrine function, and respiratory system, contributing to various manifestations. Conclusions Classic DM1 had insidious onset in young and middle-aged patients. Positive family history was important in diagnosis but not necessary. Lingualis and thenar were the most sensitive parts in finding atypical myotonia. Percussion of the two sites was helpful in detection of atypical myotonia. Cataracts were most common following muscular involvement. Premature alopecia in male patients and ＂hatchet＂ appearance were the outstanding signs of DM1. Molecular diagnosis should be carried out for suspected patients as soon as possible. Necessary auxiliary examinations and regular follow-up should be performed to evaluate multisystemic involvement （especial the heart and respiratory system） in DM1 patients.