Benign Essential Blepharospasm

Benign Essential Blepharospasm

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Benign Essential Blepharospasm is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • BEB
  • blepharospasm
  • secondary blepharospasm

Disorder Subdivisions

  • None

General Discussion

Benign essential blepharospasm (BEB) is a rare neurological disorder in which affected individuals experience involuntary muscle spasms and contractions of the muscles around the eyes. These spasms come and go (intermittent). Symptoms may begin as eye twitching, blinking and/or irritation. Eventually, BEB causes involuntary closure of the eyes. The exact cause of BEB is unknown. The disorder is one of a group of disorders collectively known as dystonia.



Dystonia is a group of movement disorders that vary in their symptoms, causes, progression, and treatments. This group of neurological conditions is generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures).

Symptoms

In the early stages, benign essential blepharospasm is characterized by frequent or forced blinking and eye irritation that often occurs as a result of specific stimuli including bright lights, fatigue, emotional tension, and environmental factors such as wind or air pollution. BEB virtually always affects both eyes (bilateral).



The frequency of muscle spasms and contractions may increase causing involuntary narrowing of the opening between the eyelids or closure of the eyelids. It may become progressively harder for affected individuals to keep their eyes open. In severe cases, the spasms may intensify to the point where the eyelids are closed several hours at a time. Although an individual's vision remains unaffected, prolonged closure of the eyelids may cause a person to become functionally blind.



BEB may occur in association with dystonia of the lower part of the face, mouth or jaw. In these cases, BEB may be associated with jaw clenching, grimacing or tongue protrusion. This is called Meige syndrome or cranial dystonia. BEB may also be associated with abnormally dry eyes.



In most cases, spasms and contractions occur during the daytime and disappear while the individual is sleeping, only to recur the next day. Symptoms of BEB may be temporarily alleviated by a variety of activities including singing, laughing, yawning, and chewing.



Other activities may worsen symptoms. Such activities include reading, walking, watching television, exposure to bright lights, and driving. Stress may also worsen symptoms.

Causes

The cause of benign essential blepharospasm is unknown. Researchers speculate that the cause of BEB may be multifactorial (e.g., caused by the interaction of certain genetic and environmental factors).



Malfunctioning of a region of the brain known as the basal ganglia may play a role in the development of BEB. The basal ganglia are structures composed of nerve cells located deep in the brain. The basal ganglia are involved in the regulation of motor and learning functions. The exact problem(s) associated with the basal ganglia in individuals with BEB is unknown.



In some cases, BEB runs in families. In these rare instances, it is more obvious that BEB may be inherited. More study is required to determine the exact role genetics plays in the development of BEB.



In some cases, affected individuals may have a history of local eye disease such as eye trauma. However, no proven relationship between local eye disease and the development of BEB has been established. In most cases, BEB develops spontaneously with no known precipitating factor.



BEB may occur secondary to other disorders such as tardive dyskinesia or generalized dystonia, Wilson disease, and various parkinsonian syndromes. BEB may also occur secondary to the use of certain drugs, specifically the drugs used to treat Parkinson's disease.

Affected Populations

Benign essential blepharospasm affects women more often than men. The average age of onset is 56.



It is estimated that approximately 2,000 new cases of BEB are diagnosed each year in the United States. The prevalence of BEB in the general population is approximately 5 per 100,000 individuals.

Standard Therapies

Diagnosis

No laboratory tests exist to make a definitive diagnosis of benign essential blepharospasm. A diagnosis is made based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic symptoms.



Treatment

Treatment of BEB consists of oral drug therapy, focal injections of botulinum toxin (four different brands are available in the USA) or surgery to remove eyelid muscle, used alone or in conjunction with the botulinum toxin injections.



Approximately one-third of affected individuals are treated with oral medications (drug therapy) specifically anticholinergic drugs and with dopamine depleters such as tetrabenazine. The results of these drug treatments are usually moderate or unsatisfactory and often temporary. Additional drugs that have been used to treat BEB include clonazepam, trihexyphenidyl, diazepam, and baclofen.



Botulinum toxin has been approved by the Food and Drug Administration (FDA) as a treatment for blepharospasm and has become the primary form of treatment. The technique of injecting small amounts of botulinum toxin into the orbicularis oculi weakens these muscles for approximately three months, after which time the procedure must be repeated. Botulinum toxin injections have been helpful for many individuals with blepharospasm, but some people do not respond well. Botox, distributed by Allergan, and Xeomin, distributed by Merz Pharmaceuticals, are type A botulinum toxin products that are FDA approved for the treatment of blepharospasm.



Two surgical approaches are in use in cases in which drug therapy does not work. In a procedure called a protractor myectomy, the eyelid muscles themselves are removed either partially or completely.



In the past a procedure known as a neurectomy was performed to treat individuals with BEB. However, the complication rate is much higher than with a myectomy and this procedure is rarely used anymore. In a neurectomy, sections are taken off the branches of the facial nerve leading to the orbicularis oculi. Paralysis of the entire upper face may result, but the nerve branches tend to regenerate after a period of months or years.

Investigational Therapies

Dysport, a type A botulinum toxin product, and Myobloc, a type B botulinum toxin product, have been used to treat blepharospasm but are not yet FDA approved for this indication.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com



For information about clinical trials conducted in Europe, contact:

https://www.clinicaltrialsregister.eu/

References

JOURNAL ARTICLES

Hallett M, Evinger C, Jankovic J, Stacy M; BEBRF International Workshop. Update on blepharospasm: report from the BEBRF International Workshop. Neurology. 2008;71(16):1275-82.



Simpson DM, Blitzer A, Brashear A, et al; Assessment: Botulinum neurotoxin for the treatment of movement disorders (an evidence-based review): report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology. Neurology. 2008;70(19):1699-706.



INTERNET

Graham, RH. Benign Essential Blepharospasm. emedicine. Last Updated: September 2, 2011 Available at: http://emedicine.medscape.com/article/1212176-overview Accessed:February 4, 2013.



National Institute of Neurological Disorders and Stroke (NINDS). Benign Essential Blepharospasm Information Page. Last Updated:January 14, 2013 Available at: http://www.ninds.nih.gov/disorders/blepharospasm/blepharospasm.htm Accessed:February 4, 2013.



WE MOVE Web site. Blepharospasm. Last Updated: January 14, 2011.Available at: http://www.wemove.org/dys/dys_fbleph.html Accessed:February 4, 2013.



McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Benign Essential Blepharospasm. Entry No: 606798. Last Updated:4/26/12. Available at: http://omim.org/entry/606798 Accessed:February 4, 2013.

Resources

WE MOVE (Worldwide Education and Awareness for Movement Disorders)

5731 Mosholu Avenue

Bronx, NY 10471

USA

Tel: (347)843-6132

Fax: (718)601-5112

Email: wemove@wemove.org

Internet: http://www.wemove.org



Benign Essential Blepharospasm Research Foundation, Inc.

PO Box 12468

Beaumont, TX 77726-2468

Tel: (409)832-0788

Fax: (409)832-0890

Email: bebrf@blepharospasm.org

Internet: http://www.blepharospasm.org



Dystonia Medical Research Foundation

1 East Wacker Drive, Suite 2810 East Wacker Drive

Suite 2810

Chicago, IL 60601-1905

United States

Tel: (312)755-0198

Fax: (312)803-0138

Tel: (800)377-3978

Email: dystonia@dystonia-foundation.org

Internet: http://www.dystonia-foundation.org



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Dystonia Society

89 Albert Embankment, 2nd Floor

Vauxhall

London, SE1 7TP

United Kingdom

Tel: 08454586211

Fax: 08454586311

Tel: 08454586322

Email: angie@dystonia.org.uk

Internet: http://www.dystonia.org.uk



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



American Dystonia Society

17 Suffolk Lane

Suite 1

Princeton Junction, NJ 08550

Tel: (310)237-5478

Fax: (609)275-5663

Email: info@dystonia.us

Internet: http://www.dystonia.us



Benign Essential Blepharospasm Canadian Research Foundation, Inc.

78 Andrew Park

Woodbridge, Ontario

L4L 1E9

Canada

Tel: 9052640708

Tel: 8668902473

Email: bebcrf@blepharospasm.ca

Internet: http://www.blepharospasm.ca



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use . How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.