Benign Essential Blepharospasm

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Identifier 946-4
Title Benign Essential Blepharospasm
Ocular Movements Bilateral Blepharospasm; 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
Supplementary Materials PowerPoint Presentation: Blepharospasm Round-Up: Shirley H. Wray, M.D., Ph.D., FRCP, Harvard Medical School
Presenting Symptom Frequent blinking
History The patient is a 60 year old estate manager with a history of retinal laser therapy, dry eyes and age related bilateral ptosis. He carries a diagnosis of hilar lymphadenopathy due to sarcoid and has had cancer of the kidney. He presented in 1995 with a 6 month history of frequent blinking and spasms of eye closure that he could not control. He reported driving cautiously because his eyes may shut completely during a spasm and interrupt his vision. He experienced difficulty watching television and reading. These symptoms were aggravated by stress, fatigue, and having to attend social functions which he found embarrassing. He denied any involuntary movements of his lower face. Family History: Negative for blepharospasm, dystonia or neurodegenerative disease including Parkinson's Disease. Past History: Negative for depression and the use of narcoleptic drugs.
Clinical This patient, with benign essential blepharospasm (BEB), describes very well how disabling this disorder is and how it disrupted his way of life. Focal dystonia of the eyelids is manifested by frequent blinking and repetitive involuntary sustained contractions of the pre-tarsal portion of the orbicularis oculi muscle. Suppression of frequent blinking is evident when he pays attention to focusing his eyes on a rotating optokinetic drum to follow the black and white lines and by counting out loud up to 30. There are no involuntary movements of the lower face, tongue or neck muscles. The history of dry eyes prior to or at the onset of BEB was considered to be possible precipitating trigger. The video illustrates how to conduct the clinical eyelid examination. 1. Observe the eyes and face when taking the history 2. Assess lid position in different gaze directions 3. Look for blepharoclonus on gentle eye closure 4. Count the blink rate 5. Check for suppression of blepharospasm by visual attention (OKN drum) 6. Look for a positive Glabella tap - An inability to inhibit a blink when the forehead is tapped and 7. Pay attention to the latency and speed of voluntary vertical and horizontal eye movements on command. The differential diagnosis of blepharospasm is straight forward. Conditions to consider are: • Stress Related Excess Blinking/ Voluntary Blepharospasm (see #923-6) • Cranial Dystonia or Meige's Syndrome • Hemifacial Spasm (see #937-1) • Apraxia of Eyelid Opening BEB is a Focal Dystonia confined to the eyelids. Dystonia involving other muscles occurs in approximately 30-40% of patients with bilateral blepharospasm within 6 years as an orderly temporal progression of dystonia in the cranial-cervical area. Oromandibular dystonia is the commonest association with blepharospasm leading to a diagnosis of Cranial Dystonia or Meige's Syndrome.
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 et al., 2003). 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 of the Eyelids.
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 declined Botox and he was treated instead by: 1. Partial surgical correction of age related ptosis 2. A trial on Amitriptyline with moderate improvement 3. Sinemet, (carbidopa) 25/100 2 tabs t.i.d. with good results (see post-treatment video 946-4)
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 161-5, 923-6
Contributor Secondary Steve Smith, Videographer; Ray Balhorn, Digital Video Compressionist
Reviewer Dr. Mark Hallett, Dr. Dan Boghen
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 1996
Type Image/MovingImage
Format video/mp4
Source 3/4" Umatic master videotape
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/s6fz071j
Setname ehsl_novel_shw
Date Created 2005-08-23
Date Modified 2017-11-22
ID 188511
Reference URL