Oromandibular Dystonia: A Clinical Examination of 2,020 Cases

• DOI: 10.3389/fneur.2021.700714
• Publication Date: 2021-09-16T04:55:34Z
• Authors: Laura M. Scorr; Stewart A. Factor; Sahyli Perez Parra; Rachel Kaye; Randal C. Paniello; Scott A. Norris; Joel S. Perlmutter; Tobias Bäumer; Tatiana Usnich; Brian D. Berman; Marie Mailly; Emmanuel Roze; Marie Vidailhet; Joseph Jankovic; Mark S. LeDoux; Richard Barbano; Florence C. F. Chang; Victor S. C. Fung; Sarah Pirio Richa...; Andrew Blitzer; H. A. Jinnah
• Keywords: Focal dystonia; Etiology

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