Research Trends and Insights of Charcot-Marie-Tooth Disease (CMT): A Visualization Analysis (2000-2025)

The Charcot-Marie-Tooth disease (CMT) comprises genetically diverse motor and sensory neuropathies. This study aims to conduct a comprehensive investigation into the current academic and clinical status of CMT, thereby providing researchers with an extensive understanding of the research landscape and analysis of prevailing trends.

We performed a comprehensive literature search on CMT from 2000 to 2025, using Web of Science Core Collection, employing bibliometric and visual analysis tools such as CiteSpace and VOSviewer.

The survey yielded 3115 records, showing a gradual annual publication increase. The USA, Italy, England, Germany, and France were the top five contributors. University of London (England) had the most publications (234). Assistance Publique Hopitaux Paris (France) and NSW Health (Australia) collaborated most with other institutions. Keywords analysis indicates primary research focuses: identifying novel gene variants, exploring disease progression markers, utilizing of animal models, investigating pathogenesis mechanisms of disease-causing genes, and advancing gene therapy. The three most cited articles investigated mitochondrial dysfunction's role in CMT pathogenesis.

This study identifies three core research hotspots in CMT: establishing genotype-phenotype correlations, elucidating pathogenic mechanisms of causative genes, and developing molecular targeted therapies. The continuous refinement of disease biomarkers remains essential for guiding clinical trials.