Knowledge mapping of alström syndrome research: a bibliometric and visualization analysis based on WoS data from 2000...

Alström syndrome (ALMS) is an ultra-rare autosomal recessive disorder caused by mutations in the ALMS1 gene, leading to a complex spectrum of multi-organ failure, including early-onset sensory loss, obesity, and cardiomyopathy. Despite its clinical significance, a systematic overview of the global research landscape and the intellectual evolution of this field over the past 2 decades remains absent. This study was undertaken to conduct a comprehensive bibliometric and visualization analysis of ALMS research from 2000 to 2025, aiming to identify foundational contributions, evaluate international collaboration patterns, and pinpoint emerging research frontiers. Utilizing data from the Web of Science Core Collection, 345 relevant English-language articles and reviews were analyzed using VOSviewer, CiteSpace, and the R-bibliometrix package. Our findings revealed an exponential growth phase in publications post-2020, with developed nations dominating the research output and Jackson Laboratory serving as a critical international hub. Prolific contributors such as Jan D. Marshall and Pietro Maffei have established dense collaboration networks that facilitate the transition of ALMS research from early genetic characterization to contemporary precision medicine. Keyword and co-citation analysis further highlight a thematic shift toward "ciliopathy" contexts, with recent hotspots focusing on "whole exome sequencing" and the management of "cardiomyopathy". These results imply that while our understanding of ALMS pathogenesis is maturing, significant challenges in phenotypic heterogeneity and the lack of targeted therapies persist. Future research should prioritize interdisciplinary resource integration and the application of advanced genomics to optimize clinical management and patient outcomes in this complex rare disease.