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目的分析Duchenne型假肥大肌营养不良症(DMD)患儿主要生活事件发生时间,了解DMD进展规律及主要临床特征。方法选取临床确诊436例DMD患者(经基因检测或肌肉活检证实),详细记录患者临床资料,分析患者的主要临床特点、进展情况、智力情况。检测其血清肌酸激酶(CK)水平,并分析CK的演变规律。结果 DMD患儿就诊时年龄为(6.37±2.88)岁,病程为(4.46±3.02)a,走路无力易摔倒和上楼困难是患者就诊的主要原因。学走路月龄在18个月以上的患儿约占59.86%。96.56%的患儿小腿腓肠肌假性肥大;5～7岁DMD患儿中93.59%存在Gower’s征阳性。血清CK水平在2～5岁逐渐升高,6～7岁达到高峰,其后逐年下降,15岁时仍然明显高于健康人。结论 DMD患者病程进展遵循一定规律,一般出生时正常,然后依次出现习步延迟、上楼困难和步行一小段距离的能力衰退,直至不能行走。
Objective To analyze the time of occurrence of major life events in children with Duchenne type of Duchenne muscular dystrophy (DMD) and to understand the regularity of DMD and the main clinical features. Methods A total of 436 DMD patients (confirmed by genetic test or muscle biopsy) were selected. The clinical data of patients were recorded in detail and the main clinical features, progress and intelligence of the patients were analyzed. The serum creatine kinase (CK) level was measured and the evolution of CK was analyzed. Results The age of the children with DMD was (6.37 ± 2.88) years old and the duration of the disease was (4.46 ± 3.02) a. The main reason that the patients were treated was due to the weakness of walking and difficulty of going upstairs. Learning to walk about 18 months of age children accounted for about 59.86%. 96.56% of the children had a pseudo hypertrophy of calf gastrocnemius and 93.59% of DMD children aged 5 to 7 years had Gower’s sign positive. Serum CK levels increased gradually from 2 to 5 years old, peaked from 6 to 7 years old, then decreased year by year, still significantly higher than healthy people at 15 years old. Conclusion The progression of DMD patients follows a certain rule, and usually normal at birth. And then there is a delay in walking delay, difficulties in going upstairs and the ability to walk a short distance until they can not walk.