Modern concepts of muscular dystonia

This study presents a comprehensive analysis of the genetic, clinical, and therapeutic aspects of muscular dystonias — a heterogeneous group of neurological disorders characterized by pathological postures and disabling hyperkinesias. Based on a synthesis of data from recent decades, the authors highlight key advancements: the identification of 25 hereditary forms (DYT1–DYT25), the role of mutations in the TOR1A gene (DYT1) in disrupting intracellular transport, and progress in symptomatic treatments such as botulinum toxin therapy, deep brain stimulation, and MR-guided focused ultrasound (MRgFUS). Special attention is given to the limitations of current approaches, including an incomplete understanding of pathogenesis and therapeutic resistance observed in 30-40% of patients. The necessity of integrating genetic testing, neuroimaging, and emerging biotechnologies (e.g., CRISPR, recombinant toxins) is emphasized as a pathway toward developing targeted treatment strategies. The paper also summarizes epidemiological data (prevalence: 3–60 cases per 100,000), presents the current classification framework, and outlines prospects for personalized medicine – offering a roadmap for future research.