摘要
目的观察腓骨肌萎缩症(CMT)1型患者的临床表现及神经电生理特点,同时利用两种不同方法检测CMT1A型相关基因是否存在突变,并分析两种方法的临床应用价值以进一步确定CMT1A型的诊断。方法对临床确诊为CMT1型的5例患者进行详细的临床及神经电生理检查,同时对所有患者利用等位基因特异性PCR及MLPA两种方法进行PMP22基因重复突变检测。结果 4例患者20岁前发病,其中2例有家族史,1例患者30岁左右发病。临床特点为进行性四肢远端无力伴肌萎缩,四肢远端感觉减退,腱反射均减弱或消失,2例患者出现弓型足。神经电生理检查示神经传导速度减慢,波幅轻度降低。两种基因检测均发现1例患者存在PMP22基因重复突变。结论 CMT1型发病年龄较早,主要表现为进行性四肢无力伴肌萎缩,神经电生理可见神经传导速度明显降低,波幅略有降低。等位基因特异性PCR和MLPA两种方法检测基因突变结果一致。
Objective To study the clinical and neuro-electrophysiological features of Charcot-Marie-Tooth type 1. Two methods were combined to detect mutations in CMT 1A - related genes and comparison of the two methods was per- formed to determine the clinical value for further diagnosis of CMT1A. Methods 5 cases of patients with CMT1 underwent detailed clinical and neuro-electrophysiology examinations. Allele-specific PCR and multiplex ligation-dependent probe am- plification type CMT1 （ MLPA-CMTI ） were respectively used to detect PMP22 gene duplication mutation in 5 cases. Results Two cases has a family history, age at onset was in the first or second decade except one patient. The clinical features were slowly progressive distalmuscle weakness, atrophy and end - brush form sensory decrement,diminshed or absent tendon reflexes. There are foot deformity in 2 patients. EMG showed conduction velocities highly decreased and volatility decreased slightly. One patient was detected with PMP22 gene duplication mutation by two genetic testing mathods. Conclusion The disease of CMT1 usually begins in childhood or adolescence. Clinical featurs include progressive distal muscle weekness and atrophy. EMG showed conduction velocities highly decreased and volatility decreased slightly. Both allele-specific PCR and MLPA were able to detect the gene mutations with same result.
出处
《中风与神经疾病杂志》
CAS
CSCD
北大核心
2013年第3期201-203,共3页
Journal of Apoplexy and Nervous Diseases
关键词
腓骨肌萎缩症
临床
基因突变
Charcot-Marie-Tooth disease
Clinical
Gene mutation
