Objective To explore the defect in phenotype of inherited neuromyotonia,and to perform pedigree analysis. Methods This study was done by on - the - spot survey. History collection and neurological examination were carried out in all members of this family and electro-myographic ( EMG ) examination had been performed in 3 patients of this family. Results Fifty three members in 5 generations of this family were examined, 17 of them had abnormal findings indicating neuromyotonia without evidence of episodic ataxia and epilepsy, the ratio of male/female was 13/4, and the age of onset varied from 10 to 20 years old. The predominant clinical manifestations included muscular stiffness and muscular twitching in limbs and trunk muscles, including neck, abdomen, laryngeal muscles. The mode of inheritance in this family should be autosomal dominant according to their pedigree. Conclusion This neuromyotonia family is compatible with autosomal dominant inheritance. The involved muscles were extensively distributed, even included laryngeal muscles. All of these data suggested that the involvement of other novel causative genes in pathogenesis of this disorder can not be completely excluded.%目的 寻找遗传性神经性肌强直表型缺陷,并进行家系分析.方法 对家系成员进行实地调查,并绘制系谱图;对调查的家系成员进行病史、神经系统检查,3例患者进行了肌电图检查.结果 收集到一个5代53人的遗传性神经性肌强直家系,17人患有该病症,其中男性13人,女性4人,发病年龄为10～20岁.临床主要表现为肌肉强直和肌肉颤搐,受累肌群包括颈部、腹部、四肢和咽喉肌肉,无发作性共济失调和癫痫发作.家系分析表明为常染色体显性遗传.结论 该家系为常染色体显性遗传,主要累及周围神经系统,无中枢神经系统异常表现.受累肌肉广泛,包括极为罕见的咽喉肌.不能除外为新的致病基因所致.
展开▼
