肯尼迪病患者的临床与肌电图特点(附三例报告)  

The clinical and electromyogram features of Kennedy disease(a report of three cases)

作　　者：李靖[1] 李传芬[1] 胡怀强[1] 刘付红[1] 苏净[1] 高丽国 曹秉振[1] 

机构地区：[1]济南军区总医院神经内科,250031

出　　处：《中国神经免疫学和神经病学杂志》2015年第2期86-88,92,共4页Chinese Journal of Neuroimmunology and Neurology

摘　　要：目的探讨肯尼迪病(KD)的临床表现及肌电图特点。方法总结3例经基因确诊的KD患者的临床资料,分析其临床、肌电图特点及实验室检查结果。结果 3例患者均表现为以肢体近端和延髓受累为主的下运动神经元损害,均可见上肢震颤,其中2例患者可见口周肌束震颤;3例患者血清肌酸激酶均升高(分别为1201、817、1247U/L);3例患者肌电图均呈广泛的慢性神经源性损害,并存在感觉神经动作电位(SNAP)波幅降低、感觉神经传导速度(SCV)减慢等感觉神经病变的表现。3例患者雄激素受体基因外显子中CAG重复序列次数均>40(分别为48、51、52)。结论 KD的临床特点为缓慢进展的延髓和四肢肌肉萎缩无力,伴有内分泌或代谢异常;KD的肌电图表现为广泛神经源性损害,伴有感觉神经病变。Objective To summarize the clinical and electromyogram features of Kennedy disease（KD）,to further understand KD.Methods We analyzed the clinical manifestation,electromyogram features,and laboratory examinations of three KD patients whose diagnosis were defined by gene analysis.Results All of the cases were characterized by lower motor neuron damage predominantly in the proximal and bulbar muscle,accompanied by upper limb tremor and high levels of creatine kinase（1201 U/L,817 U/L,1247 U/L,respectively）.There were obvious perioral muscle tremors in two cases.EMG detected a widespread neuronal damage,decreased amplitude of SNAP,and SCV in all three cases.Three CAG repeat numbers in AR gene were all above 40（48,51,52,respectively）.Conclusions KD is characterized by slow progress of bulbar and limb muscle weakness and atrophy,associated with endocrine or metabolic disturbance.KD showed neurogenic damage,accompanied by sensory neuropathy on electromyography.

关 键 词：肯尼迪病 临床特点 肌电图 

分 类 号：R746.9[医药卫生—神经病学与精神病学]