Journal article
Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study
Journal of neurology, neurosurgery and psychiatry, Vol.91(3), pp.314-320
03/01/2020
DOI: 10.1136/jnnp-2019-321794
PMCID: PMC7024047
PMID: 31848221
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.
Details
- Title: Subtitle
- Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study
- Creators
- Brian D. Berman - University of Colorado Anschutz Medical CampusChristopher L. Groth - University of IowaStefan H. Sillau - University of Colorado Anschutz Medical CampusSarah Pirio Richardson - University of New MexicoScott A. Norris - Washington University in St. LouisJohanna Junker - Department of NeurologyNorbert Brueggemann - Univ Lubeck, Dept Neurol, Lubeck, GermanyPinky Agarwal - Evergreen Health Medical CenterRichard L. Barbano - University of RochesterAlberto J. Espay - University of CincinnatiJoaquin A. Vizcarra - University of CincinnatiChristine Klein - Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.Tobias Baeumer - Univ Lubeck, Inst Neurogenet, Lubeck, GermanySebastian Loens - Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.Stephen G. Reich - University of Maryland Medical CenterMarie Vidailhet - Pitié-Salpêtrière HospitalCecilia Bonnet - Pitié-Salpêtrière HospitalEmmanuel Roze - Pitié-Salpêtrière HospitalHyder A. Jinnah - Emory UniversityJoel S. Perlmutter - Washington University in St. Louis
- Resource Type
- Journal article
- Publication Details
- Journal of neurology, neurosurgery and psychiatry, Vol.91(3), pp.314-320
- DOI
- 10.1136/jnnp-2019-321794
- PMID
- 31848221
- PMCID
- PMC7024047
- NLM abbreviation
- J Neurol Neurosurg Psychiatry
- ISSN
- 0022-3050
- eISSN
- 1468-330X
- Publisher
- Bmj Publishing Group
- Number of pages
- 7
- Grant note
- U54 TR0001456 / National Institutes of Health from the Office of Rare Diseases Research in the National Center for Advancing Translational Science; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA U54 TR0001456 / National Institutes of Health from the Office of National Institute of Neurological Disorders and Stroke Dystonia Coalition
- Language
- English
- Date published
- 03/01/2020
- Academic Unit
- Neurology
- Record Identifier
- 9984302199902771
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