Objective: To determine predictors of alcohol responsiveness in a large cohort of dystonia patients (Dystonia Coalition Cohort).

Background: A notable proportion of dystonia patients show improvement of motor symptoms after alcohol consumption (1,2). It remains unknown whether alcohol responsiveness in dystonia is associated with certain clinical features such as type of dystonia, dystonic tremor, and a positive family history of dystonia or other movement disorders.

Methods: 2159 participants with dystonia were prospectively enrolled in the cross-sectional Dystonia Coalition multicenter study between 5 January 2011 and 28 August 2015 across 37 clinical sites. Patients with secondary dystonia, combined dystonia, confirmed mutation in a dystonia-related gene (total n=164) or unknown alcohol responsiveness (n= 737) were excluded. Patients answered a standardized questionnaire and were clinically examined using a standardized video protocol. Alcohol responsiveness was determined by patients’ self-report. Severity of dystonia was evaluated using the Burke-Fahn-Marsden Dystonia Rating Scale.

Results: 1258 patients with isolated dystonia (mean age: 59.5±12.2 years, female n=898) met the inclusion criteria. Of these, 369 patients (29.3%) reported improvement of dystonia after alcohol consumption. Alcohol responsiveness was not related to sex (p = .742), current age (p = .715) or severity of dystonia (p = .623). Age at onset was lower in patients who responded to alcohol (p < .001). Alcohol responsiveness differed across dystonia subgroups (multifocal/generalized > segmental (p = .014); cervical and laryngeal > cranial and limb (p < .001)) and was related to the presence of dystonic tremor (p < .001) and a positive family history of movement disorders (p = .001).

Conclusions: The association of alcohol responsiveness with a positive family history of movement disorders, generalized dystonia, and an earlier age at onset of dystonia suggests that dystonia patients with an underlying genetic contribution may be more likely to have a beneficial response to alcohol. The fact that dystonic tremor may respond to alcohol is in accord with the observation that the intake of GABAergic drugs may have a beneficial effect in a proportion of patients. The association of different clinical parameters and alcohol responsiveness might allow clinicians to identify dystonia patients that may more beneficially respond to GABAergic drugs.

References: 1. Micheli F, Uribe-Roca C, Saenz-Farret M. Alcohol-Sensitive Generalized Dystonia. Clin Neuropharmacol. 2017;40(1):48-49. 2. Lim SC, Kim JS, An JY, Yoon Kang S. Alcohol-responsive writer’s cramp. Intern Med. 2012;51(1):99-101.

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