Environmental Factors and Disease Progression in Adult-Onset Isolated Focal Dystonia: A Tertiary Center Cohort Study

Background: Adult-onset isolated focal dystonia (AOIFD) is the most common form of dystonia, being the third most common movement disorder. AOIFD has a heterogenous phenotype, etiopathogenesis being incompletely understood, both genetic and environmental factors playing a role. Objective: The objective of this study was to characterize a cohort of Romanian patients with AOIFD and to explore the potential associations between environmental factors and disease progression. Methods: We conducted an observational cross-sectional study on patients with AOIFD evaluated in a tertiary neurology referral centre in Romania, approved by the local Ethics Committee. Demographic, clinical, environmental, and treatment-related data were collected. Associations were assessed using univariable analyses and logistic regression models. Results: 89 patients were included. The most common phenotypes were cervical dystonia (53.9%) and blepharospasm (36.0%). Disease progression was present in 75.3% of cases. No statistically significant associations were observed between disease progression and environmental or lifestyle factors. Isometric occupational activity was associated with acute onset (p=0.023). Evolution to Meige syndrome occurred exclusively in patients with late-onset blepharospasm. Conclusions: AOIFD is a heterogeneous multifactorial disorder. While the assessed environmental factors were not significantly associated with disease progression, certain phenotype-specific patterns were observed.