临床神经病学杂志2011，Vol.24Issue(5)：327-330,4.
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
邰宏飞 1潘华 1陈娜 1梁宪红 1张在强1
作者信息
- 1. 100050 首都医科大学附属北京天坛医院神经内科
- 折叠
摘要
Abstract
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.关键词
腓骨肌萎缩症/轴索/临床特点Key words
Charcot-Marie-Tooth disease/ axon/ clinical feature分类
医药卫生引用本文复制引用
邰宏飞,潘华,陈娜,梁宪红,张在强..腓骨肌萎缩症2型的临床特点研究[J].临床神经病学杂志,2011,24(5):327-330,4.
