Dystonia - Biomarkers

There is currently no biomarker of dystonia and no gold-standard test for its diagnosis.

Monogenic forms of Dystonia (this figure is adapted from Thomsen M, et al. Annu Rev Pathol. 2024).
Overview of confirmed monogenic forms of dystonia based on the most recent update of the Task Force for the Nomenclature of Genetic Movement Disorders (Lange LM et al, 2022 Mov. Disord. 37(5):905–35). Abbreviations: ATX, ataxia; CHOR, chorea; DYT, dystonia; HSP, hereditary spastic paraplegia; NBIA, neurodegeneration with brain iron accumulation; PARK, Parkinson’s disease.