关键词: 腓骨肌萎缩症, 诊断, 治疗, 进展

Abstract: Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy,mainly manifested by symmetrically progressive distal extremity muscle weakness,atrophy,and sensory abnormalities,and often accompanied by deformities such as pes cavovarus foot.Its diagnosis depends on medical history,physical examination,electrophysiological testing,and genetic testing.Whole-exome sequencing is helpful for determining the molecular subtypes.The treatment of CMT features multidisciplinary collaboration,precision,a step-by-step approach,and individualization,mainly focusing on symptomatic and supportive treatments,including pain management,rehabilitation training,psychological support,and the use of orthotics.The diagnosis and treatment of CMT involve a comprehensive treatment system.Currently,there is no radical cure for this disease,but specific drugs such as PXT3003 have shown certain efficacy in clinical trials.Gene and stem-cell therapies are still in the basic research stage.

Key words: Charcot-Marie-Tooth diseases, diagnosis, treatment, update