[Genetic Dystonias]

Dystonia is a movement disorder characterized by abnormal, sustained or intermittent movements and/or postures, which are often exacerbated by voluntary action and associated with overflow phenomena. The current classification is structured along two axes: a clinical axis, which considers features such as age at onset and pattern of distribution, and an etiological axis, which integrates genetic, acquired and anatomical causes. Genetic dystonias constitute a broad and heterogeneous group, frequently beginning in childhood or adolescence, and may present as isolated, combined or complex forms. Among the most relevant entities are dystonias associated with TOR1A, THAP1, GCH1, SGCE and KMT2B, each with distinctive clinical, genetic and therapeutic characteristics. Early recognition of these conditions is essential, given its impact on etiological diagnosis, genetic counseling and therapeutic decision-making, including the use of targeted treatments and advanced therapies such as deep brain stimulation. Ongoing advances in molecular genetics have expanded the known phenotypic spectrum, underscoring the importance of an integrated diagnostic approach to optimize the management and prognosis of patients with dystonia.