摘要
目的分析不伴有感觉异常肯尼迪病的临床特征、血清学检查、电生理检查等,以指导临床诊断降低误诊率。方法收集经基因明确诊断的肯尼迪病5例,详细询问其病史,进行全面的体格检查包括详尽的神经系统查体,收集并分析其实验室检查指标、电生理检查特点,及基因测定AR基因1号外显子CAG重复序列。结果5例患者均无明显阳性家族史,均为男性,平均起病年龄(39.8±7.2)岁,从发病到确诊平均病程(9.0±5.2)年,3例患者起病部位为双下肢近端无力,1例患者为口周及颊部"肉跳"感,1例患者为男性乳腺发育;最显著的临床表现为舌肌萎缩、舌肌纤颤、四肢近端肌肉无力;5例患者均无临床及电生理测定的感觉异常。结论肯尼迪病是一种累及下运动神经元的神经变性疾病,感觉不受累的患者也应考虑肯尼迪病,确诊依赖基因测定。
Objective To analyze the clinical feature, serum examination, EMG of Kennedy＇ Disease to reduce misdiagnosis of Kennedy＇s Disease. Methods Five cases of Kennedy＇s disease were confirmed by genetic test. The clinical data was analyzed including clinical features, laboratory findings, EMG characteristics and determination of AR gene exon 1 CAG repeat sequence. Results These cases were male without an obvious positive family history. The average age of onset was 39.8 ±7.2 years old and the average duration from onset to diagnosis was 9 ±5.2 years. Onset symptoms included Lower limbs weakness in 3 cases, facial fasciculationin 1 cases and gynecomastia in 1 case. The most prominent clinical manifestations were tongue muscle atrophy, tongue muscle fibrillation and proximal limb muscle weakness. In addition, these 5 cases did not have clinical manifestation of sensation loss nor EMG evidence of abnormal sensation. Conclusion Kennedy＇s disease is a neurodegenerative disease characterized by lower motor neuron damage.The clinical features of these 5 cases are approximately the same as those reported in previous literatures. Although the patients have been reported to have abnormal sensation, the present study indicates that some patients with Kennedy＇s disease may not present with abnormal sensation and that the diagnosis of Kennedy＇s disease depends on the genetic test.
出处
《中国神经精神疾病杂志》
CAS
CSCD
北大核心
2017年第8期485-489,共5页
Chinese Journal of Nervous and Mental Diseases
关键词
肯尼迪病
AR突变蛋白
多系统病变
Kennedy＇ Disease
AR mutation protein
Multisystem lesion
