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Oromandibular Dystonia: A Clinical Examination of 2,020 Cases

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 Richardson
Andrew Blitzer
H. A. Jinnah
Source :
Frontiers in Neurology, Vol 12 (2021)
Publication Year :
2021
Publisher :
Frontiers Media S.A., 2021.

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.

Details

Language :
English
ISSN :
16642295
Volume :
12
Database :
Directory of Open Access Journals
Journal :
Frontiers in Neurology
Publication Type :
Academic Journal
Accession number :
edsdoj.0634a2ad37b94f16a06e33a9b223c951
Document Type :
article
Full Text :
https://doi.org/10.3389/fneur.2021.700714