腓骨肌萎缩症2型的临床特点研究

Investigation of clinical features on Charcot-Marie-Tooth disease type 2

目的研究腓骨肌萎缩症2型(CMT2)的临床特点。方法回顾性分析9例CMT2患者的临床资料。结果本组男5例,女4例;平均发病年龄21.7岁。平均神经病残疾评分32.6分,平均CMT评分13.3分。均为隐匿性起病,缓慢进展,主要表现为慢性对称性四肢远端肌无力和肌萎缩,感觉症状轻微。1例患者伴有限制性心肌病,临床罕见。9例患者神经电生理检查示运动、感觉神经传导动作电位波幅降低或消失,1例患者伴神经传导速度减慢(<38 m/s),周围神经病变严重。4例腓肠神经及腓短肌肌肉病理学检查符合CMT2典型神经肌肉病理表现。MFN2基因突变分析发现,1例MFN2基因第18外显子发生L710P突变。结论 CMT2的主要临床特点为对称性四肢远端肌无力和肌萎缩,周围神经损害严重但功能相对良好。限制性心肌病可能是该病的表现型之一。MFN2基因L710P突变可能为CMT2致病基因的突变型之一。

Objective To investigate the clinical features of Charcot-Marie-Tooth disease type 2（CMT2）.Methods The clinical data of 9 patients with CMT2 were analyzed retrospectively.Results There were 5 males and 4 females in this group,the mean age of onset was 21.7 years old.The average neuropathy disability score was 32.6,and the average CMT score was 13.3.All the patients were onset latent,evolved slowly.The main symptoms of them were chronic and symmetrical muscle weakness and atrophy in distal extremities with light sensory symptoms.One patient was also suffered with restrictive cardiomyopathy,which was rare in clinical.Electrophysiological examination revealed motor and sensory nerve conduction of action potential amplitude decreased or disappeared in 9 patients,and 1 patient was found reduced nerve conduction velocity（38 m/s） and severe peripheral nerve injury.Sural nerve and peroneus brevis muscle pathology results in 4 cases were consistent with CMT2 typical neuromuscular pathology.MFN2 mutation analysis found that 1 patient had a novel mutation L710P in MFN2 exon 18.Conclusions The main symptoms of CMT2 patients are symmetrical muscle weakness and atrophy in distal extremities,and peripheral nerve injury is severe,but the function is relatively good.Restrictive cardiomyopathy may be one of the phenotypes.The MFN2 L710P mutantion may be one of the pathopoiesia gene of CMT2 disease.