Risk of spread in adult-onset isolated focal dystonia: A prospective international cohort study

Brian D. Berman, Christopher L. Groth, Stefan H. Sillau, Sarah Pirio Richardson, Scott A. Norris, Johanna Junker, Norbert Brüggemann, Pinky Agarwal, Richard L. Barbano, Alberto J. Espay, Joaquin A. Vizcarra, Christine Klein, Tobias Baümer, Sebastian Loens, Stephen G. Reich, Marie Vidailhet, Cecilia Bonnet, Emmanuel Rose, Hyder A. Jinnah, Joel S. Perlmutter

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Objective: Isolated focal dystonia can spread to muscles beyond the initially affected body region, but risk of spread has not been evaluated in a prospective manner. Furthermore, body regions at risk for spread and the clinical factors associated with spread risk are not well characterised. We sought here to prospectively characterise risk of spread in recently diagnosed adult-onset isolated focal dystonia patients. Methods: Patients enrolled in the Dystonia Coalition with isolated dystonia affecting only the neck, upper face, hand or larynx at onset of symptoms were included. Timing of follow-up visits was based on a sliding scale depending on symptom onset and ranged from 1 to 4 years. Descriptive statistics, Kaplan-Meier survival curves and Cox proportional hazard regression models were used to assess clinical characteristics associated with dystonia spread. Results: 487 enrolled participants (68.3% women; mean age: 55.6±12.2 years) met our inclusion/exclusion criteria. Spread was observed in 50% of blepharospasm, 8% of cervical dystonia, 17% of hand dystonia and 16% of laryngeal dystonia cases. Most common regions for first spread were the oromandibular region (42.2%) and neck (22.4%) for blepharospasm, hand (3.5%) for cervical dystonia and neck for hand (12.8%) and laryngeal (15.8%) dystonia. Increased spread risk was associated with a positive family history (HR=2.18, p=0.012) and self-reported alcohol responsiveness (HR=2.59, p=0.009). Conclusions: Initial body region affected in isolated focal dystonia has differential risk and patterns of spread. Genetic factors likely influence the risk of spread. These findings can aid clinical prognostication and inform future investigations into potential disease-modifying treatments.

Original languageEnglish
Article number321794
JournalJournal of Neurology, Neurosurgery and Psychiatry
StateAccepted/In press - 2019


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