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目的:对Kennedy病(KD)的临床特点进行分析。方法:收集7例KD患者的临床资料,分析其临床与实验室辅助检查结果的特点及雄激素受体(AR)基因外显子1编码的CAG三核苷酸重复序列的检测结果。结果:KD患者均于中青年发病,进展缓慢。临床主要表现为肢体和球部的下运动神经元性瘫痪。面肌颤搐及上肢震颤常见,不对称的肢体无力及远端损害并不罕见,患者性激素水平正常,但部分患者可出现男性乳腺发育等轻度雄激素不敏感症状。患者的血清肌酸激酶水平普遍增高,部分患者三酰甘油水平轻度增高,肌电图呈广泛的慢性神经源性损害,有感觉神经元及脑神经运动核的受累。AR基因外显子1中CAG重复序列个数>40次。结论:KD的临床表现与以往文献报道基本一致,但也有诸如不对称的肢体无力及肢体远端起病等不典型表现。
Objective: To analyze the clinical features of Kennedy’s disease (KD). Methods: The clinical data of 7 patients with KD were collected. The characteristics of clinical and laboratory auxiliary examination results and the results of CAG trinucleotide repeat sequence coded by exon 1 of androgen receptor (AR) gene were analyzed. Results: KD patients are young and middle-aged, slow progress. Clinical manifestations of lower limbs and the ball of motor neurons paralysis. Facial muscle twitching and upper limb tremor are common, asymmetric limb weakness and distal damage is not uncommon, patients with normal levels of sex hormones, but some patients may be mild development of male breast androgen insensitivity symptoms. Serum creatine kinase levels in patients generally increased, some patients mild increase in triglyceride levels, EMG showed a wide range of chronic neurogenic damage, sensory neurons and cranial nerve motor nucleus involvement. The number of CAG repeats in exon 1 of AR gene> 40. Conclusion: The clinical manifestations of KD are consistent with those reported in the past, but there are also atypical manifestations such as asymmetrical limb weakness and distal limb onset.