Global trends and hotspots of Charcot–Marie–Tooth disease

Background: Charcot–Marie–Tooth disease (CMT) is a hereditary neuropathy characterized by progressive sensory and motor deficits. Over the past decade, the volume of CMT-related publications has increased steadily. This study aimed to examine global publication trends, key contributors, collaborative networks, and emerging research hotspots in CMT through bibliometric analysis. Methods: Publications related to CMT from 2014 to 2024 were retrieved from the Web of Science Core Collection. VOSviewer 1.6.20, CiteSpace 6.3.R1, and the R package “bibliometrix” were used to analyze annual publication output, country and institutional contributions, journal distribution, author collaboration, citation networks, keyword co-occurrence, and research trends. Results: A total of 1531 CMT-related articles were identified, with an annual growth rate of 1.75%. The average number of citations per document was 15.56. The United States ranked first in research output, contributing 324 publications and accounting for 21.2% of the total, followed by China and Italy. The University of London and University College London were the leading institutions, and the Journal of the Peripheral Nervous System and Neuromuscular Disorders were the main publication venues. Keyword analysis showed that “mutations,” “neuropathy,” and “gene” were the most frequent terms, reflecting sustained attention to genetic mechanisms, disease pathogenesis, and molecular diagnosis. Citation burst analysis identified “variants” and “deoxyribonucleic acid (DNA) methylation” as recent burst keywords beginning in 2022, suggesting increasing interest in variant interpretation, epigenetic regulation, and advanced sequencing-based approaches, including whole-genome sequencing. Conclusion: This bibliometric analysis shows that global CMT research maintained steady growth from 2014 to 2024, with the United States, China, Italy, the United Kingdom, and several leading institutions making major contributions. Current research remains centered on genetic mechanisms and molecular diagnosis, while recent hotspots indicate a shift toward variant interpretation, epigenetic regulation, whole-genome sequencing, and personalized medicine. Future bibliometric studies should include additional databases and underrepresented regions to provide a more comprehensive understanding of the evolving CMT research landscape.