Objective: Blepharospasm is a focal dystonia whose diagnosis is completely clinical with no blood or imaging biomarker. We observed that sometimes, patients with other disorders are misdiagnosed as blepharospasm.

Background: Blepharospasm is a focal dystonia involving the orbicularis oculi and other periocular muscles characterized by increased blinking and spasms of periocular muscles. As the diagnosisis essentially clinical, often patients with other disorders are misdiagnosed to have blepharospasm.

Method: We retrospectively collected data of patients with other disorders who were misdiagnosed and referred as blepharospasm to the movement disorders clinic of Shree Krishna Hospital, a rural medical teaching hospital in western India between Jan 2012 to Jan 2019.

Results: On review of the last 7 years data, we found that of the total 29 patients referred as blepharospasm, 11 patients [ nearly one-third] had an initial misdiagnosis at referral. Functional blepharospasm was present in 3 patients. Presence of only frequent blinking and no eyelid contraction, change on diverting attention, suggestibility and entrainability suggested functional disorder. 2 patients had ocular myasthenia gravis. Frequent blinking can occur in myasthenia as a compensatory adaptation for fatiguability and ptosis which can be misdiagnosed as blepharospasm.  Also, one patient referred to us as blepharospasm actually had ocular myasthenia gravis and the frequent blinking to compensate for fatigue was misdiagnosed as blepharospasm. 2 patients had ocular pathology [chronic dacrocystitis / conjunctivitis] leading to eyelid irritation and frequent blinking. One patient had Sjogren syndrome with dry eyes leading to frequent blinking. 2 patients actually had eyelid opening apraxia and had presented to ophthalmologists and were referred as blepharospasm, but actually had features of progressive supranuclear palsy on detailed evaluation.

Conclusion: Myasthenia gravis, functional movement disorders, ocular disorders causing eyelid irritation and apraxia of eye lid opening can all mimic blepharospasm. Ascertaining frequent eyelid contractions too along with frequent blinking, ruling out eyelid fatigue/ irritation and features of functional disorder are important before diagnosing blepharospasm. A good and focused clinical examination excluding the above imitators is important in all patients referred as blepharospasm.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/misdiagnosis-in-blepharospasm-the-common-imitators-which-should-not-be-missed/