Developing Specific Recommendations for Diagnosis and Classification of Blepharospasm


DC: Diagnosis and classification of blepharospasm: Recommendations based on empirical evidence


Blepharospasm is a rare disorder characterized by spasms of muscles surrounding both eyes with excessive blinking and squinting. It is the second most common form of dystonia (involuntary muscle twitching) and often spreads to other regions of the body. Currently, guidelines for diagnosis and classification are ambiguous. 

In this study, researchers aimed to provide more specific recommendations for diagnosis and classification of blepharospasm. Data were obtained from the Dystonia Coalition for patients diagnosed with all types of isolated dystonia. The team evaluated these data to determine how examinations recorded by movement disorder specialists were used to classify blepharospasm as focal, segmental, or multifocal. 

Results showed much variability in expert opinion regarding the diagnosis of blepharospasm, which was often inconsistent with existing guidelines for the diagnosis and classification of focal blepharospasm. This study highlights the need for more specific guidelines, which are provided in the publication.


Kilic-Berkmen G, Defazio G, Hallett M, Berardelli A, Ferrazzano G, Belvisi D, Klein C, Bäumer T, Weissbach A, Perlmutter JS, Feuerstein J, Jinnah HA; Dystonia Coalition Investigators. Diagnosis and classification of blepharospasm: Recommendations based on empirical evidence. J Neurol Sci. 2022 Aug 15;439:120319. doi: 10.1016/j.jns.2022.120319. Epub 2022 Jun 10. PMID: 35716653; PMCID: PMC9357089.


Source: The Rare Diseases Clinical Research Network (RDCRN) Weekly Update: August 16, 2022

Last update: Oct 2022