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=1
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 soreness or pain (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.