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

• Type of Material: Article
• Authors: Brian D. Berman, University of Colorado Anschutz Medical Campus; Christopher L. Groth, University of Iowa; Stefan H. Sillau, University of Colorado Anschutz Medical Campus; Sarah Pirio Richardson, University of New Mexico; Scott A. Norris, Washington University in St. Louis; Johanna Junker, University of Lubeck; Norbert Brueggemann, University of Lubeck; Pinky Agarwal, Evergreen Health; Richard L. Barbano, University of Rochester; Alberto J. Espay, University of Cincinnati; Joaquin A. Vizcarra, University of Cincinnati; Christine Klein, University of Lubeck; Tobias Baeumer, University of Lubeck; Sebastian Loens, University of Lubeck; Stephen G. Reich, University of Maryland; Marie Vidailhet, Salpetriere Hospital; Cecilia Bonnet, Salpetriere Hospital; Emmanuel Roze, Salpetriere Hospital; Hyder Jinnah, Emory University; Joel S. Perlmutter, Washington University in St. Louis
• Language: English
• Date: 2020-03-01
• Publisher: BMJ Publishing Group
• Publication Version: Final Published Version
• Copyright Statement: © Author(s) (or their employer(s)) 2019.
• License: Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1136/jnnp-2019-321794
• Title of Journal or Parent Work: Journal of Neurosurgery and Psychiatry
• Volume: 91
• Issue: 3
• Start Page: 314
• End Page: 320
• Grant/Funding Information: This work was supported by the Dystonia Coalition, which receives the majority of its support through National Institutes of Health grant U54 TR0001456 (formerly NS065701) from the Office of Rare Diseases Research in the National Center for Advancing Translational Science and National Institute of Neurological Disorders and Stroke).
• Keywords: Life Sciences & Biomedicine; Surgery; Clinical Neurology; Neurosciences & Neurology; QUALITY-OF-LIFE; Science & Technology; CERVICAL DYSTONIA; Psychiatry; BLEPHAROSPASM
• Research Categories: Biology, Neuroscience

Abstract

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.