Dystonia: from phenotypes to genetics and therapeutic advances

This review summarizes recent advances in the clinical classification, diagnostic approaches, genetic spectrum and therapeutic strategies for dystonia.

Dystonia is a heterogeneous movement disorder that may present as an isolated motor syndrome or as part of a broader neurological condition. Early recognition of its clinical features is essential for accurate diagnosis and timely treatment. Recent advances in genetics have identified multiple causative genes and provided insights into the molecular basis of dystonia; however, mechanism-based therapies remain limited. We highlight updated clinical classification systems and diagnostic algorithms, along with key clinical features that may indicate specific genetic forms of dystonia. Emerging insights into neuronal and circuit-level dysfunction are discussed, emphasizing underlying molecular mechanisms. In addition, we review current treatment strategies, including pharmacological therapies, botulinum toxin injections, and neuromodulation approaches such as deep brain stimulation.

Integrating clinical phenotyping with genetic and mechanistic insights provides a more precise diagnostic framework for dystonia. This approach facilitates improved patient stratification and lays the foundation for the development of mechanism-targeted therapies, ultimately advancing precision medicine in dystonia.