Awareness and care practices for rare neurologic diseases among senior neurologists: A global survey

Authors:  Dae-Gyu Jang, Antonio Federico, Masha G. Savelieff, Wolfgang Grisold, Michelangelo Mancuso, Maria J. Molnar, Eva L. Feldman, Evan L. Reynolds

DOI: https://doi.org/10.1016/j.jns.2025.123395

Highlights

• Rare neurologic diseases (RNDs) are difficult to diagnose and treat.
• We surveyed neurologists worldwide on RND diagnostic and care availability.
• Most respondents agreed that RND patients should receive timely and effective care.
• There were differences across respondents' country of practice to diagnose RNDs.
• This global survey highlights potential disparities in resources and preparedness for RNDs.

Rare neurologic diseases (RNDs) are difficult to diagnose and treat due to their low prevalence and complex nature. This survey evaluated awareness and current care status of RNDs among esteemed neurologists affiliated with the World Federation of Neurology (WFN).

A 34-question survey was distributed to renowned neurologists, including delegates from national neurology societies in the WFN Assembly, various WFN committees, and members of the Rare Neurologic Diseases Specialist group. Responses were stratified by geographical regions, including Africa, the Americas, Asia/Oceania, and Europe, and into four income groups based on the World Bank Indicator. Descriptive statistics summarised responses, stratified by geographical regions or income groups, and significant differences were assessed by Fisher's exact test.

Of 190 invited neurologists, 64 responded (34 % response rate). Among respondents, 89 % agreed that RND patients should receive timely and effective care on par with more common neurological conditions. Additionally, 77 % of respondents overall thought most RNDs could be accurately diagnosed in their country. However, there were significant differences in the perceived ability of respondents' country of practice to diagnose RNDs by region, specifically in Africa (25 %), and by income of country of practice, specifically in the lower-income group (17 %).

This global survey highlights varying RND diagnosis and care by country socioeconomic status, suggesting potential disparities in resources and preparedness. To improve outcomes and quality-of-life for RND patients, efforts should focus on improving diagnostic capabilities, fostering collaboration among neurology centers, and promoting education on the unique challenges and treatment options of RNDs.