Charcot-Marie-Tooth病的遗传、临床和电生理观察(附20例临床分析)

A study of Charcot-Marie-Tooth disease in genetics, clinical manifestation and electrophysiology (clinical analysis of 20 cases)

本文报道 ２０例 Ｃｈａｒｃｏｔ－Ｍａｒｉｅ－Ｔｏｏｔｈ病的遗传、临床和电生理资料。其中男 １６例，女 ４例，平均发病年龄为２６．７５岁。发现４例显性遗传，３例隐性遗传，１０例散发，３例遗传情况不详。主要症状有高弓足、垂足、鹤腿和腱反射消失；上肢前臂有肌萎缩者占１／４。所有病人电生理检查均有失神经现象，特别是ＭＣＶ有明显减慢。且发现ＭＣＶ的减慢和临床严重程度无相关联系。

This paper reports transmission, clinical and electrophysiology data about 20 patients with Charcot-Marie-Tooth diseases. It included 16 cases male, 4 cases femal, the average onset age is 26. 75 years old. We found that 4 cases of transmission were dominant, 3 recessive, 10 sporadic and the remaining 3 nuclear. The main signs were high pedal arches, drop foot,' stork leg' and loss of tendon reflex. One-fouth cases were presented amyotrophy in the forearm of upper limb. The electrophysiological tests showed denervation in all cases,especially MCV decreased obviously. No relationship between the decrease of MCV and clinical seventy was found.