Research trends on spinal muscular atrophy from 1995 to 2023: A bibliometric analysis

Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by progressive muscle weakness due to motor neuron degeneration. The discovery of the survival motor neuron 1 (SMN1) gene in 1995 revolutionized SMA research, leading to significant therapeutic advancements. This bibliometric analysis aimed to explore global trends in SMA research and therapy, with a particular focus on China.

A comprehensive database search identified 4506 relevant publications (3812 articles, 694 reviews) published between 1995 and 2023. Bibliometric tools were used to analyze publication trends, collaborations, and research topics.

SMA research has experienced substantial growth, with the United States leading in publications followed by the United Kingdom and Germany. China has shown increasing engagement in this field. Key research areas include genetic and molecular mechanisms, survival motor neuron gene therapy, antisense oligonucleotides, and muscle strength-promoting factors. Chinese researchers have contributed significantly to these areas, with a higher reporting frequency of SMA-related topics compared to other countries.

This bibliometric analysis provides a comprehensive overview of global SMA research, highlighting significant advancements, and identifying future directions. The findings offer valuable insights for researchers, clinicians, and policymakers in China to ensure alignment with global medical advancements and improve the lives of individuals affected by SMA.