AUTHOR=Scorr Laura M. , Cho Hyun Joo , Kilic-Berkmen Gamze , McKay J. Lucas , Hallett Mark , Klein Christine , Baumer Tobias , Berman Brian D. , Feuerstein Jeanne S. , Perlmutter Joel S. , Berardelli Alfredo , Ferrazzano Gina , Wagle-Shukla Aparna , Malaty Irene A. , Jankovic Joseph , Bellows Steven T. , Barbano Richard L. , Vidailhet Marie , Roze Emmanuel , Bonnet Cecilia , Mahajan Abhimanyu , LeDoux Mark S. , Fung Victor S.C. , Chang Florence C.F. , Defazio Giovanni , Ercoli Tomaso , Factor Stewart , Wojno Ted , Jinnah H. A. 

TITLE=Clinical Features and Evolution of Blepharospasm: A Multicenter International Cohort and Systematic Literature Review

JOURNAL=Dystonia

VOLUME=Volume 1 - 2022

YEAR=2022

URL=https://www.frontierspartnerships.org/journals/dystonia/articles/10.3389/dyst.2022.10359

DOI=10.3389/dyst.2022.10359

ISSN=2813-2106

ABSTRACT=Objective.  Blepharospasm is a type of dystonia where the diagnosis is often delayed because its varied clinical manifestations are not well recognized. The purpose of this study was to provide a comprehensive picture of its clinical features including presenting features, motor features, and non-motor features.  
Methods.  This was a two-part study.  The first part involved a systematic literature review that summarized clinical features for 10,324 cases taken from 41 prior reports.  The second part involved a summary of clinical features for 884 cases enrolled in a large multicenter cohort collected by the Dystonia Coalition investigators, along with an analysis of the factors that contribute to the spread of dystonia beyond the periocular region.
Results.  For cases in the literature and the Dystonia Coalition, blepharospasm emerged in the 50s and was more frequent in women. Many presented with non-specific motor symptoms such as increased blinking (51.9%) or non-motor sensory features such as eye pain or soreness (38.7%), photophobia (35.5%), or dry eyes (10.7%).  Non-motor psychiatric features were also common including anxiety disorders (34-40%) and depression (21-24%).  Among cases presenting with blepharospasm in the Dystonia Coalition cohort, 61% experienced spread of dystonia to other regions, most commonly the oromandibular region and neck.  Features associated with spread included severity of blepharospasm, family history of dystonia, depression, and anxiety.  
Conclusions.  This study provides a comprehensive summary of motor and non-motor features of blepharospasm, along with novel insights into factors that may be responsible for its poor diagnostic recognition and natural history.