Benign Essential Blepharospasm

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Identifier 161-5
Title Benign Essential Blepharospasm
Ocular Movements Benign Essential Blepharospasm
Creator Shirley H. Wray, M.D., Ph.D., FRCP, Professor of Neurology Harvard Medical School, Director, Unit for Neurovisual Disorders, Massachusetts General Hospital
Contributor Primary Shirley H. Wray, MD, PhD, FRCP, Professor of Neurology, Harvard Medical School; Director, Unit for Neurovisual Disorders, Massachusetts General Hospital
Subject Benign Essential Blepharospasm; Focal Dystonia; Blepharospasm
Supplementary Materials PowerPoint Presentation: Blepharospasm Round-Up Shirley H. Wray, M.D., Ph.D., FRCP Harvard Medical School
Presenting Symptom Frequent Eyelid Blinking
History Patient is a 55 year old woman functionally blind from severe benign essential blepharospasm. She presented with frequent blinking.continuous spasms of eye closure and great difficulty opening her eyes i.e. blepharospasm associated "apraxia of eyelid opening". Symptomatic Inquiry negative for tremor of the face, neck or limbs. Past History negative for neurological disorder, depression or the use of narcoleptic drugs. Family History negative for blepharospasm, dystonia and neurodegenerative disease.
Clinical This patient with severe benign essential blepharospasm (BEB) has active contractions of the orbicularis oculi which prevent eye opening. The eyes not only failing to open, they are being actively squeezed shut. Electrophysiological investigation of similar patients reconfirms active muscle contraction limited to the pre-tarsal portion of the orbicularis oculi muscle. The term apraxia of eyelid opening is a misnomer and replaced in (ref ) favor of "focal eyelid dystonia". For more detail discussion of benign essential blepharospasm/focal dystonia access ID 946-4. ID 946-4 contains a detailed review of the anatomy of the eyelids and the dynamics of normal eyelid blinking. Unfortunately for this woman, she presented in the early 1970's in advance of therapy with botulinum toxin A injections into multiple sites in the upper and lower eyelids.
Neuroimaging MRI studies are not done routinely in focal eyelid dystonia.
Anatomy The dynamics of normal eyelid blinking depends upon a key eyelid muscle - the levator palpebrae superioris muscle which elevates the lid. This muscle, often referred to as the 7th extraocular muscle, is significantly different from the extraocular muscles in that it contains only singly innervated fibres of the types suitable for fatigue resistant tonic activity. The motor neurons that activate the levator are located in a single midline central caudal nucleus of the 3rd nerve complex in the midbrain and the levator is innervated by the superior branch of the 3rd nerve. The levator acting alone controls: 1. Tonic lid elevation to keep the eyes open and 2. Voluntary eye closure and eye opening. Two further muscles, innervated by the facial nerve, act on the eyelid: The frontalis muscle which helps to retract the lid in extreme upward gaze, and the orbicularis oculi muscle which controls periodic and reflex blinking and firm eye closure in protective and expressive acts like sneezing. In all kinds of blinks the levator is abruptly inhibited to allow the eyes to close and then it resumes its prior level of activity once the contraction of the palpebral portion of the orbicularis oculi, closing the eyelids momentarily, is over. Conversely, the orbicularis oculi activity precedes and outlasts the levator inhibition in firm eye closure. The brain's control of the eyelids is major. The cerebral cortex (R>L) controls the tonic activity of the levator and voluntary eye opening and eye closure. The dynamics of normal blinks, spontaneous and voluntary, and the frequency of periodic blinks depend on the affective, attentional and cognitive state of the patient. During sleep and when the eyes are gently closed, activity of the levator ceases completely. The extrapyramidal dopaminergic circuit influences the execution of blinks and blink frequency and the basal ganglia play a role in the inhibition of the levator during blinks and eye closure.
Etiology The fundamental etiology of primary BEB is likely genetic in most cases, even though most cases appear to be sporadic. Secondary cases of BEB arise as a consequence of a lesion of the brain (Basil Ganglia, Thalamus, and Brain Stem) or they are associate with degenerative CNS disease, including: Parkinson's Disease - a dopamine deficiency Progressive Supranuclear Palsy - a tauopathy Multiple System Atrophy Occasionally, secondary BEB occurs as a complication of neuroleptic induced tardive dyskinesia. As with virtually all neurological degenerative disorders, genetics play a role. "We don't know any of the genes that might be responsible for BEB yet. We do know that all the "late life" focal dystonias are related, likely with the same gene since all these dystonias run in some families. (Defazio, etl., 2003a; Defazio et al., 2003b; Defazio et al., 2001) Some families with BEB only have BEB, however, and no other focal dystonia. There is an association with the dopamine D5 receptor in cervical dystonia, and this may be relevant for BEB also. (Brancati et al., 2003) The consequence of the genetic abnormality would be some physiological substrate that would predispose a person to get BEB." (Personal communication Mark Hallett, MD, 2005) At present, the speculation is that the late age of onset of BEB and the company that BEB keeps with progressive degenerative CNS disease suggests that this focal dystonic disorder may be secondary to a central disturbance of one or more neurotransmitters and/or synaptic transmission, in genetically predisposed patients.
Disease/Diagnosis Benign Essential Blepharospasm - Focal Dystonia "Apraxia" of eyelid opening
Treatment A general recommendation for systemic therapy is to begin an anti-cholinergic drug, slowly building up to a high dose, followed by a trial of baclofen, clonazepam, and then tetrabenazine. When medical therapy fails, the treatment of choice is Botulinum Toxin A (Botox) injections into multiple (10 - 12) sites in the upper and lower eyelids. If this treatment fails, then myectomy, limited or full, is often the next step. This patient was seen before Botox was available.
References 1. Averbuch-Heller L. Neurology of the eyelids. Current Opinion in Ophthalmology 1997; 8:27-34. 2. Boghen D. The apraxia of lid opening: a review. Neurology 1997; 48:1491-1603. 3. Defazio G, Brancati F, Valente EM, Caputo V, Pizzuti A, Martino D, Abbruzzese G, Livrea P, Berardelli A, Dallapiccola B. Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. Mov Disord. 2003 Feb;18(2):207-12. 4. Hallett M. Blepharospasm: recent advances. Neurology. 2002 Nov 12;59(9):1306-12. Review. 5. Hallett M. Dystonia: abnormal movements result from loss of inhibition. Adv Neurol. 2004;94:1-9. Review. 6. Hallett M. Surround inhibition. Suppl Clin Neurophysiol. 2003;56:153-9. Review. 7. Schmidtke K, Buttner-Ennever JA. Nervous Control of Eyelid Function. A review of clinical, experimental and pathological data. Brain 1992; 115:227-247. 8. Wray SH. Blepharospasm Roundup. The 23rd Annual International Benign Essential Blepharospasm Research Foundation Scientific Symposium, Park City Utah. August 2005.
Relation is Part of 923-6, 946-4
Contributor Secondary Ray Balhorn, Video compressionist
Reviewer David S. Zee, M.D., Johns Hopkins Hospital, Baltimore, MD
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 1970
Type Image/MovingImage
Format video/mp4
Source 16 mm film
Rights Management Copyright 2002. For further information regarding the rights to this collection, please visit:
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E, SLC, UT 84112-5890
Collection Neuro-ophthalmology Virtual Education Library: NOVEL
Language eng
ARK ark:/87278/s6p58k1z
Setname ehsl_novel_shw
Date Created 2007-03-08
Date Modified 2018-07-30
ID 188579
Reference URL