Oromandibular Dystonia: A Clinical Examination of 2,020 Cases

• Type of Material: Article
• Authors: Laura Scorr, Emory University; Stewart Factor, Emory University; Sahyli Perez Parra, Emory University; Rachel Kaye, Rutgers University; Randal C Paniello, Washington University School of Medicine; Scott A Norris, Washington University School of Medicine; Joel S Perlmutter, Washington University School of Medicine; Tobias Bäumer, University of Lubeck; Tatiana Usnich, University of Lubeck; Brian D Berman, University of Colorado, Aurora; Marie Mailly, Fondation Adolphe de Rothschild; Emmanuel Roze, Hôpital de la Pitié Salpétrière; Marie Vidailhet, Hôpital de la Pitié Salpétrière; Joseph Jankovic, Baylor St. Luke's Medical Center; Mark S LeDoux, Veracity Neuroscience LLC; Richard Barbano, University of Rochester; Florence CF Chang, University of Sydney; Victor SC Fung, University of Sydney; Sarah Pirio Richardson, University of New Mexico; Andrew Blitzer, Head and Neck Surgical Group, New York; Hyder Jinnah, Emory University
• Language: English
• Date: 2021-09-16
• Publisher: FRONTIERS MEDIA SA
• Publication Version: Final Published Version
• Copyright Statement: © 2021 Scorr, Factor, Parra, Kaye, Paniello, Norris, Perlmutter, Bäumer, Usnich, Berman, Mailly, Roze, Vidailhet, Jankovic, LeDoux, Barbano, Chang, Fung, Pirio Richardson, Blitzer and Jinnah.
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.3389/fneur.2021.700714
• Title of Journal or Parent Work: FRONTIERS IN NEUROLOGY
• Volume: 12
• Start Page: 700714
• End Page: 700714
• Grant/Funding Information: The Sartain Lanier Family Foundation as well as the Jean and Paul Amos Parkinson's Disease and Movement Disorders Program Endowment also provided support for this study (no award number).; This study was supported in part by the Dystonia Medical Research Fellowship Award (no award number) and in part by grants to the DC, a consortium of the Rare Diseases Clinical Research Network (RDCRN) that was supported by U54 TR001456 from the Office of Rare Diseases Research (ORDR) at the National Center for Advancing Clinical and Translational Sciences (NCATS) and U54 NS065701 and U54 NS116025 from the National Institute for Neurological Diseases and Stroke (NINDS).
• Keywords: tongue; SPASMODIC DYSPHONIA; botulinum (neuro)toxin; Life Sciences & Biomedicine; treatment; DISORDERS; Neurosciences; SECONDARY; dystonia; Neurosciences & Neurology; QUALITY-OF-LIFE; PHENOTYPE; jaw; Science & Technology; JAW; BOTULINUM TOXIN TREATMENT; FOCAL DYSTONIAS; Clinical Neurology
• Research Categories: Health Sciences, Medicine and Surgery

Abstract

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.