Peripheral nerve injury in LAMA2-related congenital muscular dystrophy patients
- VernacularTitle:LAMA2基因突变致先天性肌营养不良的周围神经损害研究
- Author:
Xiaoping LIANG
1
;
Shuang WANG
;
Wei ZHANG
;
Yun YUAN
;
Juan DING
;
Xingzhi CHANG
;
Cuijie WEI
;
Jieyu LIU
;
Hui XIONG
Author Information
1. 100034北京大学第一医院儿科
- Keywords:
Neuromuscular diseases;
Muscular dystrophies;
Neural conduction;
Peripheral nerves;
Myelin sheath
- From:
Chinese Journal of Pediatrics
2017;55(2):95-99
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the injury pattern and features of peripheral nerve in congenital muscular dystrophy patients caused by LAMA 2 gene mutation.Method Seventeen patients genetically or molecular pathologically diagnosed as LAMA 2-related congenital muscular dystrophy were recruited in Peking University First Hospital between 2002 and 2015.All the patients received nerve conduction velocity (NCV) and needle electromyography tests . Clinical and laboratory examination data of the patients was retrospectively analyzed .The correlation between the NCV and disease course was determined by Pearson correlation analysis.Additionally, one patient underwent a sural nerve biopsy .Result Among these 17 identified patients (13 male and 4 female), all of them were diagnosed as congenital muscular dystrophy , and all of them underwent electrophysiological examination at ages between 1 month to 6 years. Electromyogram indicated seventeen patients of myogenic damage , of whom 10 cases were complicated with reduced NCV.Twenty-six of 95 analyzed nerves showed NCV slower than the normal average of contemporary in 17%-47%.Correlation analysis between NCV and the disease course indicated that NCV of median nerves, ulnar nerves, tibial nerves and common peroneal nerves were negatively associated with the disease course (r=-0.737, -0.771, -0.540 and -0.682, respectively; all P<0.05).Sural nerve biopsy revealed peripheral neuropathy changes of myelin .Conclusion There is peripheral nerve injury in LAMA 2-related muscular dystrophy patients .It mainly manifests as demyelinating lesions .Moreover, the NCV of peripheral nerve will decrease with the increase of the course of the disease .
