Blepharospasm 40 years later

Abstract

Forty years ago, C.D. Marsden proposed that blepharospasm should be considered a form of adult-onset focal dystonia. In the present paper, we provide a comprehensive overview of the findings regarding blepharospasm reported in the past 40 years. Although prolonged spasms of the orbicularis oculi muscles remain the clinical hallmark of blepharospasm, patients with blepharospasm may be characterized by various types of involuntary activation of periocular muscles. In addition to motor features, blepharospasm patients may also have nonmotor manifestations, including psychiatric, mild cognitive, and sensory disturbances. The various motor and nonmotor symptoms are not present in all patients, suggesting that blepharospasm is phenomenologically a heterogeneous condition. This emphasizes the need for tools for severity assessment that take into account both motor and nonmotor manifestations. The cause of blepharospasm remains elusive, but several lines of evidence indicate that blepharospasm is a multifactorial condition in which one, or several, as yet unknown genes together with epigenetic and environmental factors combine to reach the threshold of the disease. Although blepharospasm was originally believed to be solely a basal ganglia disorder, neurophysiological and neuroimaging evidence point to anatomical and functional involvement of several brain regions. The contribution of multiple areas has led to the hypothesis that blepharospasm should be considered as a network disorder, and this might reflect the varying occurrence of motor and nonmotor manifestations in blepharospasm patients. Despite advances in the aetiology and pathophysiology, treatment remains symptomatic.

Dystonia: diagnosis and management

“…Additional signs observed in patients with blepharospasm are the presence of stereotyped, bilateral and synchronous spasms of the orbicularis oculi muscles. Spasms may be brief or sustained and may induce narrowing or closure of the eyelids, but of course have no torsional attitude . In the case of laryngeal dystonia, instrumental examination can reveal spasmodic contractions of the vocal folds (abductor or adductor dysphonia), also without overt torsional appearance .…”

Association between cannabis and the eyelids: A comprehensive review

“…Blepharospasm is an incurable disorder with symptoms that can only be attenuated . This rare idiopathic movement disorder is characterized by progressive, involuntary muscular contractions of the orbicularis oculi and upper facial muscles, which can lead to complete eyelid closure .…”

“…Blepharospasm is an incurable disorder with symptoms that can only be attenuated. 48 This rare idiopathic movement disorder is characterized by progressive, involuntary muscular contractions of the orbicularis oculi and upper facial muscles, which can lead to complete eyelid closure. [49][50][51] Repeated botulinum toxin injections provide a temporary and safe solution to most patients, but might come with secondary effects (ptosis, dry eye syndromes and tearing).…”

Screening Gene Mutations in Chinese Patients With Benign Essential Blepharospasm

“…The average age of onset in blepharospasm patients is in the 50s, and the onset for the female is 4.7 years late compared with the male (4). Initially, the spasms are mild and infrequent, but symptoms typically progress and are highly disruptive to the patient's visual activities and quality of life (4). While some BEB patients have family history, the disease gene has not been determined.…”