OVERVIEW OF BLEPHAROSPASM: RISK FACTORS, DIAGNOSIS, AND TREATMENT

“I love the BEBRF organization. I feel it has raised me in my career,” stated Dr. Padma Mahant in her opening remarks for “Overview of Blepharospasm Risk Factors, Diagnosis, and Treatment.” In 2001 as a fellow at the Barrow Neurological Institute in Phoenix, one of her projects with Dr. Mark Stacy and Dr. Elizabeth C. Peckham was a study involving BEBRF participants. This extensive survey included gathering blood samples key to the genetic research we have today.

That research paper, Clinical Features of Patients with Blepharospasm: A Report of 240 Cases, and a recent paper in 2021: Clinical Features and Evolution of Blepharospasm: A Multicenter International Cohort and Systematic Literature Review provided the information for Dr. Mahant’s presentation at the October 2022 Symposium. She reiterated the importance of BEBRF members participating in studies like these because blepharospasm is quite rare and under-diagnosed.

As a neurologist and specialist in movement disorders, Dr. Mahant continued with a definition of blepharospasm and, in the world of neurology, where does it fit in the Movement Disorder flow chart? These disorders are separated into two distinct categories: hypokinetic (too little movement) and hyperkinetic (too much movement). Blepharospasm falls into hyperkinetic and is grouped with Generalized Dystonia, Writers’ Cramp and Cervical Dystonia. Dystonia defined is “. . . sustained or intermittent muscle contraction; abnormal repetitive movements.” Dr. Mahant further explained blepharospasm specifically as “focal cranial dystonia (in the head); involuntary, bilateral (both sides) synchronous and sustained contractions of the muscles around the eyes.”

DIAGNOSIS & RELATED CONDITIONS

First, diagnosis can be delayed. In the review of

41 blepharospasm papers (over 10,000 patients) findings showed 50% of patients received correct diagnosis within one year of symptom onset; however, the median time from onset to diagnosis was two years, and nearly 1/3 of patients’ diagnoses was greater than five years after symptom onset. Interestingly, 60% of patients saw at least five physicians before definitive diagnosis.

Second, Dr. Mahant discussed how the diagnosis is made using quadrants of the face, differentiating:

(A) MYOKYMIA: one quadrant of face, upper or lower lid;

(B) HEMIFACIAL SPASM: two quadrants and one side of face;

(C) BLEPHAROSPASM: two quadrants, upper half of face; and

(D) MIEGE SYNDROME: four quadrants, entire face and neck.