强直性肌营养不良97例临床资料分析

目的了解强直性肌营养不良的临床特点,提高临床诊断的准确性.方法借鉴循证医学系统评价方法,对四川大学华西医院神经内科1990～2000年间出院诊断为强直性肌营养不良的住院病例资料及1980～1999年国内文献报告的临床病例资料进行综合分析. 结果共收集到97例病例资料,其中94例来自国内文献报告,3例来自四川大学华西医院病历记录.该97例中,男性64例,女性33例,平均发病年龄28.5岁.90%的病例有家族史.常见症状依次为肌强直(99%),肌无力(97%),肌萎缩(85%),白内障(63%),脱发或秃顶(57%),性腺萎缩(37%),性欲障碍(33%),心脏损害(11%),智力减退(11%),甲状腺和肾上腺功能低下(8%)和精神发育缺陷(8%).结论强直性肌营养不良除肌强直、肌无力、肌萎缩最常见外,尚伴有白内障、脱发、秃顶、性腺萎缩等多系统损害,其临床表现复杂多样,阳性家族史对该病的诊断很有帮助,需加强认识,以提高临床诊断率.

Retrospective Analysis of 97 Patients with Myotonic Dystrophy

Objective To study the clinical characteristics of myotonic dystrophy. Methods Patient records in West China Hospital, Sichuan University and China Biological Medicine Database (CBM-disc 1980-1999) were searched. Demographic data, clinical manifestations, laboratory findings of patients with myotonic dystrophy were analyzed. Results Of the total 97 patients, 64 cases were male, and 33 were female. Mean age was 28.5 years old. Ninety percent of patients had a family history. The frequency of symptoms in turn was myotonia (99%), muscle weakness (97%), muscle atrophy (85%), cataract(63%), hair losing or bald(57%) and gonadal atrophy (37%), sexuality disfunction (33%), heart damage (11%), intelligence impairment(11%), hypothyroid or disfunction of adrenal gland (8%), mental state disorders (8%). Conclusions In this group of patients, myotonia, muscle weakness and muscle atrophy were most common symptoms. In addition, some other systemic symptoms were common, such as cataract, hair losing, bald and gonadal atrophy. The clinical manifestations of myotonic dystrophy were complex.