远端型遗传性运动神经病(distal hereditary motor neuropathy,dHMN)是罕见的遗传性周围神经病,由于其发病率低,临床表现异质性强,临床易误诊或漏诊。本文报告1例可疑远端型遗传性运动神经病。患者发病十年,以隐匿性肢体无力起病,伴有...远端型遗传性运动神经病(distal hereditary motor neuropathy,dHMN)是罕见的遗传性周围神经病,由于其发病率低,临床表现异质性强,临床易误诊或漏诊。本文报告1例可疑远端型遗传性运动神经病。患者发病十年,以隐匿性肢体无力起病,伴有肌肉萎缩,无感觉异常,神经科查体及神经电生理检查均提示为远端对称性运动纤维轴索损害,详细分析患者临床资料及神经电生理检查特点,符合远端型遗传性运动神经病的特点,基因筛查提示患者有BSCL2基因突变。经营养神经等对症治疗,随访将近1年,患者临床症状及电生理检查无明显进展。该病例提示临床工作中应注意遗传性周围神经病的可能,善于分析临床及电生理检查资料,必要时采用基因诊断,做到早发现、早确诊。展开更多
This paper briefly introduces the wisdom of management contained in the quintessence of the wisdom of Chinese ancient sages "The quintessence of wisdom in books of all sorts", and explores the application of the tra...This paper briefly introduces the wisdom of management contained in the quintessence of the wisdom of Chinese ancient sages "The quintessence of wisdom in books of all sorts", and explores the application of the traditional Chinese wisdom in resolving vari- ous dilemmas or crisis in today's human society, to help the society, the nation, and the enterprises solve the management problems.展开更多
文摘远端型遗传性运动神经病(distal hereditary motor neuropathy,dHMN)是罕见的遗传性周围神经病,由于其发病率低,临床表现异质性强,临床易误诊或漏诊。本文报告1例可疑远端型遗传性运动神经病。患者发病十年,以隐匿性肢体无力起病,伴有肌肉萎缩,无感觉异常,神经科查体及神经电生理检查均提示为远端对称性运动纤维轴索损害,详细分析患者临床资料及神经电生理检查特点,符合远端型遗传性运动神经病的特点,基因筛查提示患者有BSCL2基因突变。经营养神经等对症治疗,随访将近1年,患者临床症状及电生理检查无明显进展。该病例提示临床工作中应注意遗传性周围神经病的可能,善于分析临床及电生理检查资料,必要时采用基因诊断,做到早发现、早确诊。
文摘This paper briefly introduces the wisdom of management contained in the quintessence of the wisdom of Chinese ancient sages "The quintessence of wisdom in books of all sorts", and explores the application of the traditional Chinese wisdom in resolving vari- ous dilemmas or crisis in today's human society, to help the society, the nation, and the enterprises solve the management problems.