Bibliometric analysis on trends and future direction of facioscapulohumeral muscular dystrophy research

Objectives: This study aimed to provide comprehensive overview of the evolution of the field of facioscapulohumeral muscular dystrophy (FSHD), a rare muscle disorder of genetic origin that affects individuals worldwide. Materials and methods: The Web of Science database was searched on July 21, 2023, for studies on FSHD published since 1971. Bibliometric analysis of 1,493 articles was conducted to highlight publication trends and their connection with other topics. Descriptive, performance, network, and science mapping analyses were performed using CiteSpace (6.3.R1) to identify influential factors, including keywords, most cited articles, productive authors, and journals. Results: Bibliometric analysis revealed that the FSHD literature expanded significantly over the past half century, particularly after 4,000 citations in 2015. There was growing interest in FSHD within its own field and other fields, including sports medicine, ophthalmology, molecular biology, and genetics. The most prominent topic was hearing loss in previous years, then focus shifted to myogenic differentiation and prevalence. The largest keyword cluster was gene location, while the most active study cluster was DUX4 expression. The most cited article was: "A unifying genetic model for facioscapulohumeral muscular dystrophy." Clusters neuromuscular morphogenesis and inheritable neuromuscular disorder were found crucial for linking progression of disease with muscle dysfunction. Conclusion: This study included a large number of studies published since 1971 and provided broad perspective of the FSHD field. The results suggest that new research may emerge and progress on different grounds, contributing to treatment development.