[The diagnosis of rare movement disorders in 2026. Phenotyping, genomics, brain imag-ing, a three-part work]

The diagnosis of rare movement disorders remains a major challenge in neurology due to their phenotypic diversity and genetic heterogeneity. Recent advances in high-throughput sequencing make it possible to identify new causative variants, while high-resolution MRI (7T) refine the analysis of associated brain abnormalities. The combination of rigorous clinical phenotyping, state-of-the-art genetic tools, and innovative brain imaging is currently redefining the diagnostic approach, paving the way for earlier and better targeted management of these disorders.