Scientometric Evaluation of Research on Helmer’s Myopathy (Myofibrillar Myopathy): Emerging Patterns, Thematic Evolution, and Collaborative Trends

Objective: To conduct a scientometric evaluation of research on Helmer’s myopathy (myofibrillar myopathy). This rare disease has been the subject of numerous studies, and understanding the breadth and depth of this research is crucial for future investigations and for providing a solid foundation for ongoing scientific inquiry. Methods: This study employed a descriptive and retrospective observational design and a scientometric approach to analyze the body of literature on Helmer’s myopathy. The search spanned the period from January 2019 to July 2024, yielding 109 documents. These included 91 articles, 6 reviews, 5 letters, 4 book chapters, 2 erratas, and 1 editorial, reflecting the varied scholarly discourse on this topic. Results: The analysis highlighted significant contributions from several researchers. Notably, Dieter O. Fürst from the University of Bonn, Germany, and Ichizo Nishino from the National Center of Neurology and Psychiatry Kodaira, Japan, emerged as leading contributors based on their scholarly output and h -index. The research was predominantly published in high-impact journals (see CiteScore quartiles). A thematic evolution was observed over time, with terms like “bag3,” “desminopathy,” and “filamin c” becoming increasingly associated with “myofibrillar myopathy.” The study also revealed significant international collaboration, particularly between the United States and the United Kingdom. Furthermore, most authors contributed a single document, indicating that several authors contributed to this field. Conclusion: The findings of this study provide valuable insights into the research landscape of Helmer’s myopathy. By mapping key contributors, high-impact journals, evolving themes, and patterns of collaboration, this study provides a comprehensive overview of the current state of research on Helmer’s myopathy. These insights will guide future research efforts and contribute to a deeper understanding of this rare disease.