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目的分析9例肯尼迪病(Kennedy’s disease,KD)患者的临床、实验室、电生理及基因特点,并使用运动功能评分、临床测试进行病情评估,以加强对此病的认识,对KD患者的病情进行定量评价。方法选取自2010年1月~2015年12月广州医科大学附属第二医院神经内科收治的9例基因确诊的KD患者为研究对象,分析患者的临床表现、实验室检查、肌电图及基因特点,并使用运动功能评分、临床测试进行病情评估。结果经基因检测确诊的9例KD患者,平均发病年龄为(41.78±6.87)岁,主要临床表现是四肢肌肉萎缩、无力和肢体震颤,舌肌萎缩和构音障碍;部分患者出现内分泌症状和肌酸激酶(CK)增高。肌电图可见广泛神经源性损害和感觉神经传导速度下降。患者AR基因CAG重复序列的重复次数为45~65次。随着病程的延长,运动功能评分及临床测试水平逐渐降低。结论 KD有相对独特的临床、实验室检查结果及电生理特征,确诊有赖于AR基因的(CAG)n拷贝数的检测,起病年龄、(CAG)n拷贝数、运动功能评分及临床测试下降水平对病情评估有价值。
Objective To analyze the clinical, laboratory, electrophysiological and genetic characteristics of nine Kennedy’s disease patients and to evaluate the condition by using motor function scores and clinical tests in order to enhance the understanding of the disease and to evaluate the clinical effect of KD patients Quantitative evaluation. Methods Nine KD patients diagnosed as KD patients admitted to the Second Affiliated Hospital of Guangzhou Medical University from January 2010 to December 2015 were enrolled in this study. The clinical manifestations, laboratory tests, EMG and gene Features, and use of motor function score, clinical tests for disease assessment. Results The mean age of onset was (41.78 ± 6.87) years old in 9 patients diagnosed by genetic testing. The main clinical manifestations were limb muscle atrophy, weakness and limb tremor, atrophy of tongue muscle and dysarthria. Some patients had endocrine symptoms and muscle Acid kinase (CK) increased. Electromyography shows extensive neurogenic damage and decreased sensory nerve conduction velocity. Patients with AR gene CAG repeat repeats 45 to 65 times. As the duration of the disease increased, motor function scores and clinical test scores gradually decreased. Conclusion KD has relatively unique clinical and laboratory findings and electrophysiological characteristics. The diagnosis of KD depends on the detection of (CAG) n copy number of AR gene, age of onset, (CAG) n copy number, motor function score and clinical test scores The level of evaluation of the condition is valuable.