目的探讨马德拉斯运动神经元病(Madras motor neuron disease,MMND)患者的诊断要点、鉴别诊断及治疗方法,提高对MMND认识。方法回顾性分析3例MMND患者的临床资料,与国外MMND患者在临床特点上进行比较,并复习相关文献。结果本组3例患者...目的探讨马德拉斯运动神经元病(Madras motor neuron disease,MMND)患者的诊断要点、鉴别诊断及治疗方法,提高对MMND认识。方法回顾性分析3例MMND患者的临床资料,与国外MMND患者在临床特点上进行比较,并复习相关文献。结果本组3例患者均中青年起病,主要的临床表现为多组脑神经支配肌受损和肢体的无力、萎缩。其中双侧面肌无力和萎缩、构音障碍最为常见,2例出现舌肌萎缩及震颤,1例有吞咽困难。肢体无力和萎缩上肢较下肢常见。所有患者均有上运动神经元损害的体征。血清肌酸激酶增高1例。肌电图均表现为广泛神经源性损害。临床上MMND应与肌萎缩侧索硬化、肯尼迪病、Brown-Vialetto-van Laere综合征等相鉴别。静脉注射丙种球蛋白可能对MMND有一定疗效。与国外患者相比,本组患者以对称的面肌无力起病较常见而无听力损害。结论 MMND通常表现为累及四肢、面部及球部肌肉的无力萎缩、锥体束征和听力损害。我国MMND患者与国外患者在某些临床表现上略有差别。展开更多
This study includes three aspects:(1) we have reported some novel or rare mutations of SOD1(Cu/Zn superoxide dismutase) gene in Chinese families of ALS/MND,and found quite different features from Western patients in p...This study includes three aspects:(1) we have reported some novel or rare mutations of SOD1(Cu/Zn superoxide dismutase) gene in Chinese families of ALS/MND,and found quite different features from Western patients in polymorphisms with some candidate genes such as vascular endothelial growth factor(VEGF) in sporadic ALS/MND in China.Meanwhile,we have so for established a complete clinical database with more than 1 200 cases;(2) we have established some neurophysiologic techniques of diagnosis and differential diagnosis at early-stage for ALS/MND,which include trigemino-cervical response,sternocleidomastoid and rectus electromyography,contact heat evoked potentials,and motor unit number estimate;(3) we have attempted some experimental and clinical treatments for ALS/MND,which include gene and stem cell therapies in animal models,and a pilot clinical trial of granulocyte colony stimulating factor(G-CSF) for ALS/MND patients(NCT00397423).Abstract:SUMM ARY This study includes three aspects:(1) we have reported some novel or rare mutations of SOD1(Cu /Zn superoxide d ismutase) gene in Chinese fam ilies ofALS /MND,and found quite d ifferent features from W estern patients in polymorphisms with some cand idate genes such as vascular endothelial growth factor(VEGF) in sporad ic ALS /MND in China.Meanwhile,we have so for established a com-plete clinical database with more than 1 200 cases;(2) we have established some neurophysiologic tech-niques of d iagnosis and d ifferential d iagnosis at early-stage forALS /MND,which include trigem ino-cervi-cal response,sternocleidomastoid and rectus electromyography,contact heat evoked potentials,and motor unit number estimate;(3) we have attempted some experimental and clinical treatments forALS /MND,which include gene and stem cell therapies in animalmodels,and a pilot clinical trial of granulocyte colo-ny stimulating factor(G-CSF) forALS /MND patients(NCT00397423).展开更多
文摘This study includes three aspects:(1) we have reported some novel or rare mutations of SOD1(Cu/Zn superoxide dismutase) gene in Chinese families of ALS/MND,and found quite different features from Western patients in polymorphisms with some candidate genes such as vascular endothelial growth factor(VEGF) in sporadic ALS/MND in China.Meanwhile,we have so for established a complete clinical database with more than 1 200 cases;(2) we have established some neurophysiologic techniques of diagnosis and differential diagnosis at early-stage for ALS/MND,which include trigemino-cervical response,sternocleidomastoid and rectus electromyography,contact heat evoked potentials,and motor unit number estimate;(3) we have attempted some experimental and clinical treatments for ALS/MND,which include gene and stem cell therapies in animal models,and a pilot clinical trial of granulocyte colony stimulating factor(G-CSF) for ALS/MND patients(NCT00397423).Abstract:SUMM ARY This study includes three aspects:(1) we have reported some novel or rare mutations of SOD1(Cu /Zn superoxide d ismutase) gene in Chinese fam ilies ofALS /MND,and found quite d ifferent features from W estern patients in polymorphisms with some cand idate genes such as vascular endothelial growth factor(VEGF) in sporad ic ALS /MND in China.Meanwhile,we have so for established a com-plete clinical database with more than 1 200 cases;(2) we have established some neurophysiologic tech-niques of d iagnosis and d ifferential d iagnosis at early-stage forALS /MND,which include trigem ino-cervi-cal response,sternocleidomastoid and rectus electromyography,contact heat evoked potentials,and motor unit number estimate;(3) we have attempted some experimental and clinical treatments forALS /MND,which include gene and stem cell therapies in animalmodels,and a pilot clinical trial of granulocyte colo-ny stimulating factor(G-CSF) forALS /MND patients(NCT00397423).
