期刊文献+

腓骨肌萎缩证1例报告及文献复习

Charcot-Marie-Tooth Atrophy: A Case Report and Literature Review
下载PDF
导出
摘要 目的:探讨腓骨肌萎缩证(Charcot-Marie-Tooth, CMT)的临床表现、肌电图(electmyography, EMG)及遗传学的特征。方法:分析1例以首发症状为肢体麻木伴行走不稳的腓骨肌萎缩证患者的临床资料、辅助检查及治疗经过,结合相关文献后进行总结分析。结果:患者以四肢麻木,呈针刺样,行走活动后加重,休息后可缓解,晨轻暮重,持笔写字及执筷夹物欠佳为临床表现,经中西医结合治疗和康复训练治疗后,症状改善。结论:CMT是运动感觉的神经系统疾病,临床发病率低,临床医生对CMT认识不足,应详细询问病史、家族史及基因检测,综合考虑临床资料,从而降低误诊。 Objective: To explore the clinical manifestations, electromyography and genetic characteristics of charcot-marie-tooth syndrome. Methods: The clinical data, auxiliary examination and treatment of a case of charcot-marie-tooth syndrome with limb numbness and walking instability as the first symptom were retrospectively analyzed, and the relevant literature was combined to make a sum-mary analysis. Results: The patient’s limbs were numb, like acupuncture, aggravated after walking and could be relieved after rest, light in the morning and heavy in the evening, poor holding of pen and writing and chopsticks. The symptoms were improved after the treatment of integrated Chi-nese and Western medicine and rehabilitation training. Conclusion: CMT is a kinesthesia neurolog-ical disease with a low clinical incidence and insufficient knowledge of CMT by clinicians. Therefore, detailed medical history and comprehensive consideration of clinical data should be made to re-duce misdiagnosis.
出处 《临床医学进展》 2023年第7期11768-11774,共7页 Advances in Clinical Medicine
  • 相关文献

参考文献1

二级参考文献46

  • 1Lupski JR,Reid JG,Gonzaga-Jauregui C,Rio Deiros D,Chen DC,Nazareth L,Bainbridge M,Dinh H,Jing C,Wheeler DA,McGuire AL,Zhang F,Stankiewicz P,Halperin JJ,Yang C,Gehman C,Guo D,Irikat RK,Tom W,Fantin NJ,Muzny DM,Gibbs RA.Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.N Engl J Med,2010,362(13) 1181-1191.
  • 2Rossor AM,Polke JM,Houlden H,Reilly MM.Clinical implications of genetic advances in Charcot-Marie-Tooth disease.Nat Rev Neurol,2013,9(10) 562-571.
  • 3Xu WY,Gu MM,Sun LH,Guo WT,Zhu HB,Ma JF,Yuan WT,Kuang Y,Ji BJ,Wu XL,Chen Y,Zhang HX,Sun FT,Huang W,Huang L,Chen SD,Wang ZG.A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.Am J Hum Genet,2012,91(6) 1088-1094.
  • 4Claeys KG,Lammens M,Senderek J,Weis J.Autosomal recessive demyelinating or axonal Charcot-Marie-Tooth neuropathy.In Vallat JM,Director JW.Peripheral nerve disorders pathology and genetics.UK The International Society of Neuropathology,2014 85-101.
  • 5Baxter RV,Ben Othmane K,Rochelle JM,Stajich JE,Hulette C,Dew-Knight S,Hentati F,Ben Hamida M,Bel S,Stenger JE,Gilbert JR,Pericak-Vance MA,Vance JM.Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A8q21.Nat Genet,2002,30(1) 21-22.
  • 6Niemann A,Ruegg M,La Padula V,Schenone A,Suter U.Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network new implications for Charcot-Marie-Tooth disease.J Cell Biol,2005,170(7) 1067-1078.
  • 7Pedrola L,Espert A,Wu XY,Claramunt R,Shy ME,Palau F.GDAP1,the protein causing Charcot-Marie-Tooth disease type 4A,is expressed in neurons and is associated with mitochondria.Hum Mol Genet,2005,14(8) 1087-1094.
  • 8Niemann A,Huber N,Wagner KM,Somandin C,Horn M,Lebrun-Julien F,Angst B,Pereira JA,Halfter H,Welzl H,Feltri ML,Young P,Wessig C,Toyka KV,Suter U.The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.Brain,2014,137(Pt 3) 668-682.
  • 9Noack R,Frede S,Albrecht P,Henke N,Pfeiffer A,Knoll K,Dehmel T,Meyer Zu Hörste G,Stettner M,Kieseier BC,Summer H,Golz S,Kochanski A,Wiedau-Pazos M,Arnold S,Lewerenz J,Methner A.Charcot-Marie-Tooth disease CMT4A GDAP1 increases cellular glutathione and the mitochondrial membrane potential.Hum Mol Genet,2012,21(1) 150-162.
  • 10Tazir M,Bellatache M,Nouioua S,Vallat JM.Autosomal recessive Charcot-Marie-Tooth disease from genes to phenotypes.J Peripher Nerv Syst,2013,18(2) 113-129.

共引文献1

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部