The Dystonia Coalition: A Multicenter Network for Clinical and Translational Studies

Kilic‐Berkmen, Gamze; Wright, Laura; Perlmutter, Joel S.; Comella, Cynthia L.; Hallett, Mark; Teller, Jan K.; Richardson, Sarah Pirio; Peterson, David A.; Cruchaga, Carlos; Lungu, Codrin; Jinnah, Hyder A.

doi:10.3389/fneur.2021.660909

Cited by 22 publications

(30 citation statements)

References 91 publications

(95 reference statements)

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“…Data for these analyses were obtained from the Dystonia Coalition, an ongoing multicenter international project aimed at delineating the clinical features and evolution of isolated dystonias. Methodological details for this study, 9 and clinical details for portions of this cohort have been presented elsewhere. [10][11][12] Briefly, subjects were recruited by 57 different specialists in movement disorders at 40 sites across North America, Europe, and Australia.…”

Section: Methodsmentioning

confidence: 99%

Current Guidelines for Classifying and Diagnosing Cervical Dystonia: Empirical Evidence and Recommendations

Kilic‐Berkmen

Richardson

Perlmutter

et al. 2021

Movement Disord Clin Pract

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BackgroundBackground: The dystonias are phenotypically and etiologically heterogenous disorders. Many proposals and a consensus recommendation have been provided for the diagnosis and classification of the dystonias, but these recommendations serve only as general guidelines. Current diagnosis and classification may still depend on clinical judgment causing different opinions. Objective Objective: To delineate clinical features used by movement disorder specialists in the diagnosis and classification of isolated focal cervical dystonia, and to develop recommendations for a more consistent approach to classification according to anatomical regions involved. Methods Methods: Cross-sectional data for subjects diagnosed with isolated dystonia were acquired from the Dystonia Coalition, an international, multicenter collaborative research network. Data from many movement disorder specialists were evaluated to determine how diagnoses of cervical dystonia related to their recorded examinations. Cases were included if they were given a diagnosis of focal cervical dystonia. Cases were also included if they had dystonia of the neck on exam, but were given an alternative diagnosis such as segmental dystonia. ResultsResults: Among 2916 subjects with isolated dystonia, 1258 were diagnosed with focal cervical dystonia. Among these 1258 cases, 28.3% had dystonia outside of the neck region. Regions involved outside of the neck included the shoulder, larynx, and sometimes other regions. Analysis of the results pointed to several factors that may influence specialists' use of current diagnostic guidelines for making a diagnosis of isolated focal

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Section: Methodsmentioning

confidence: 99%

Current Guidelines for Classifying and Diagnosing Cervical Dystonia: Empirical Evidence and Recommendations

Kilic‐Berkmen

Richardson

Perlmutter

et al. 2021

Movement Disord Clin Pract

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“…Data from the DC database were collected and analyzed for 727 OMD subjects enrolled across 26 international sites from 2011 to 2019 ( http://clinicaltrials.gov/show/NCT01373424 ) ( 17 ). To be included in the DC database subjects had to be diagnosed with isolated dystonia of any type (focal, segmental, multifocal, generalized).…”

Section: Methodsmentioning

confidence: 99%

“…The data from the DC also provides new information for a large number of OMD cases (n = 727). Since multiple centers used the same protocols for evaluation, these data reflect the most consistent information from the largest number of different centers (17). These data also include quantitative rating scale data for all body regions.…”

Section: Characteristicsmentioning

confidence: 98%

“…First, we provide a comprehensive summary of the largest prior studies of OMD, encompassing 1,121 total cases in 27 separate reports. Second, we describe the clinical features of OMD from the Dystonia Coalition (DC), a methodical international multicenter study of all types of dystonia ( 17 ), 727 of whom had OMD. Third, we provide details on the treatment response of 172 cases from two expert centers and investigate whether responses vary by etiology.…”

Section: Introductionmentioning

confidence: 99%

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Oromandibular Dystonia: A Clinical Examination of 2,020 Cases

et al. 2021

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Objective: The goal of this study is to better characterize the phenotypic heterogeneity of oromandibular dystonia (OMD) for the purpose of facilitating early diagnosis.Methods: First, we provide a comprehensive summary of the literature encompassing 1,121 cases. Next, we describe the clinical features of 727 OMD subjects enrolled by the Dystonia Coalition (DC), an international multicenter cohort. Finally, we summarize clinical features and treatment outcomes from cross-sectional analysis of 172 OMD subjects from two expert centers.Results: In all cohorts, typical age at onset was in the 50s and 70% of cases were female. The Dystonia Coalition cohort revealed perioral musculature was involved most commonly (85%), followed by jaw (61%) and tongue (17%). OMD more commonly appeared as part of a segmental dystonia (43%), and less commonly focal (39%) or generalized (10%). OMD was found to be associated with impaired quality of life, independent of disease severity. On average, social anxiety (LSA score: 33 ± 28) was more common than depression (BDI II score: 9.7 ± 7.8). In the expert center cohorts, botulinum toxin injections improved symptom severity by more than 50% in ~80% of subjects, regardless of etiology.Conclusions: This comprehensive description of OMD cases has revealed novel insights into the most common OMD phenotypes, pattern of dystonia distribution, associated psychiatric disturbances, and effect on QoL. We hope these findings will improve clinical recognition to aid in timely diagnosis and inform treatment strategies.

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“…We retrospectively analyzed clinical data and video recordings from 206 CD patients enrolled across 10 North American academic centers in a cross‐sectional rating scale validation study ( https://clinicaltrials.gov/ct2/show/NCT01373424 ) 24 previously conducted by the Dystonia Coalition. 25 All participants were evaluated in person by movement disorders neurologists with expertise in dystonia, and only those with isolated (primary) dystonia were enrolled into the study. Participants were treated with periodic BoNT injections and a variety of medications, including benzodiazepines, GABAergics, beta adrenergic blockers, dopaminergics, and anti‐cholinergics.…”

Section: Methodsmentioning

confidence: 99%

Hold that pose: capturing cervical dystonia's head deviation severity from video

Zhang

Cisneros

Lee

et al. 2022

Ann Clin Transl Neurol

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Objective Deviated head posture is a defining characteristic of cervical dystonia (CD). Head posture severity is typically quantified with clinical rating scales such as the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). Because clinical rating scales are inherently subjective, they are susceptible to variability that reduces their sensitivity as outcome measures. The variability could be circumvented with methods to measure CD head posture objectively. However, previously used objective methods require specialized equipment and have been limited to studies with a small number of cases. The objective of this study was to evaluate a novel software system—the Computational Motor Objective Rater (CMOR)—to quantify multi‐axis directionality and severity of head posture in CD using only conventional video camera recordings. Methods CMOR is based on computer vision and machine learning technology that captures 3D head angle from video. We used CMOR to quantify the axial patterns and severity of predominant head posture in a retrospective, cross‐sectional study of 185 patients with isolated CD recruited from 10 sites in the Dystonia Coalition. Results The predominant head posture involved more than one axis in 80.5% of patients and all three axes in 44.4%. CMOR's metrics for head posture severity correlated with severity ratings from movement disorders neurologists using both the TWSTRS‐2 and an adapted version of the Global Dystonia Rating Scale (rho = 0.59–0.68, all p <0.001). Conclusions CMOR's convergent validity with clinical rating scales and reliance upon only conventional video recordings supports its future potential for large scale multisite clinical trials.

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The Dystonia Coalition: A Multicenter Network for Clinical and Translational Studies

Cited by 22 publications

References 91 publications

Current Guidelines for Classifying and Diagnosing Cervical Dystonia: Empirical Evidence and Recommendations

Current Guidelines for Classifying and Diagnosing Cervical Dystonia: Empirical Evidence and Recommendations

Oromandibular Dystonia: A Clinical Examination of 2,020 Cases

Hold that pose: capturing cervical dystonia's head deviation severity from video

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