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

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.

Cerebellar Dysfunction as a Source of Dystonic Phenotypes in Mice

“…Over-contraction of the affected muscles is the main component of this abnormal muscle activity, however in some cases, agonist and antagonist muscles erroneously co-contract [3]. The involuntary muscle behavior can result in painful episodes that affect any muscle(s) in the body, causing blepharospasm in the eyelids (a frequent result of antipsychotic drugs [4]), writer's cramp [5], or inherited torsion dystonia to an extent that makes daily behaviors impossible [6]. Although dystonia is considered the third most common movement disorder, its true prevalence is challenging to accurately estimate because it can be comorbid with other relatively common disorders or rare motor diseases including tremor, Parkinson's disease, 1 3 Huntington's disease, stroke, epilepsy, and ataxia [7,8].…”

Health-related quality of life of daily-life-affected benign essential blepharospasm: Multi-center observational study

“…The prevalence of female in daily-life-affected BEB are mostly the same in 14 nationwide institutes of Thailand, with median prevalence of 90% (83.92%, 95%). In general, the female preponderance in BEB is approximately 60-71% [4,[27][28][29][30]. Evidence showed higher degree of symptom severity and frequency of BEB in female than in male [31,32].…”

An Exploratory, Randomized, Double‐Blind Clinical Trial of Dipraglurant for Blepharospasm

“…Blepharospasm is characterized by excessive contractions of muscles around the eyes with increased blinking, eyelid fluttering, and spasms with lengthy eyelid closures and difficulty opening the eyes. [11][12][13] Unlike some types of dystonia, there are good diagnostic criteria for blepharospasm to define a relatively homogenous population. 12,14,15 Blepharospasm is a relatively common form of dystonia, 16,17 facilitating recruitment.…”