Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Benign essential blepharospasm

Reviewed May 2010

What is benign essential blepharospasm?

Benign essential blepharospasm is a condition characterized by abnormal blinking or spasms of the eyelids. This condition is a type of dystonia, which is a group of movement disorders involving uncontrolled tensing of the muscles (muscle contractions), rhythmic shaking (tremors), and other involuntary movements. Benign essential blepharospasm is different from the common, temporary eyelid twitching that can be caused by fatigue, stress, or caffeine.

The signs and symptoms of benign essential blepharospasm usually appear in mid- to late adulthood and gradually worsen. The first symptoms of the condition include an increased frequency of blinking, dry eyes, and eye irritation that is aggravated by wind, air pollution, sunlight, and other irritants. These symptoms may begin in one eye, but they ultimately affect both eyes. As the condition progresses, spasms of the muscles surrounding the eyes cause involuntary winking or squinting. Affected individuals have increasing difficulty keeping their eyes open, which can lead to severe vision impairment.

In more than half of all people with benign essential blepharospasm, the symptoms of dystonia spread beyond the eyes to affect other facial muscles and muscles in other areas of the body. When people with benign essential blepharospasm also experience involuntary muscle spasms affecting the tongue and jaw (oromandibular dystonia), the combination of signs and symptoms is known as Meige syndrome.

How common is benign essential blepharospasm?

Benign essential blepharospasm affects an estimated 20,000 to 50,000 people in the United States. For unknown reasons, it occurs in women more than twice as often as it occurs in men.

What genes are related to benign essential blepharospasm?

The causes of benign essential blepharospasm are unknown, although the disorder likely results from a combination of genetic and environmental factors. Certain genetic changes probably increase the likelihood of developing this condition, and environmental factors may trigger the signs and symptoms in people who are at risk.

Studies suggest that this condition may be related to other forms of adult-onset dystonia, including uncontrolled twisting of the neck muscles (spasmodic torticollis) and spasms of the hand and finger muscles (writer's cramp). Researchers suspect that benign essential blepharospasm and similar forms of dystonia are associated with malfunction of the basal ganglia, which are structures deep within the brain that help start and control movement.

Although genetic factors are almost certainly involved in benign essential blepharospasm, no genes have been clearly associated with the condition. Several studies have looked at the relationship between common variations (polymorphisms) in the DRD5 and TOR1A genes and the risk of developing benign essential blepharospasm. These studies have had conflicting results, with some showing an association and others finding no connection. Researchers are working to determine which genetic factors are related to this disorder.

Related Gene(s)

Changes in these genes are associated with benign essential blepharospasm.

  • DRD5
  • TOR1A

How do people inherit benign essential blepharospasm?

Most cases of benign essential blepharospasm are sporadic, which means that the condition occurs in people with no history of this disorder or other forms of dystonia in their family.

Less commonly, benign essential blepharospasm has been found to run in families. In some of these families, the condition appears to have an autosomal dominant pattern of inheritance, which means that one copy of an altered gene in each cell is sufficient to cause the disorder. However, no causative genes have been identified.

Where can I find information about diagnosis or management of benign essential blepharospasm?

These resources address the diagnosis or management of benign essential blepharospasm and may include treatment providers.

  • Benign Essential Blepharospasm Research Foundation: Botulinum Toxin for Treatment of Blepharospasm (http://www.blepharospasm.org/botulinum-toxin.html)
  • Dystonia Medical Research Foundation: Treatments for dystonia (http://dystonia-foundation.org/living-with-dystonia/treatments)
  • Genetic Testing Registry: Blepharospasm (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2930898)
  • MedlinePlus Encyclopedia: Eyelid Twitch (http://www.nlm.nih.gov/medlineplus/ency/article/000756.htm)

You might also find information on the diagnosis or management of benign essential blepharospasm in Educational resources (http://www.ghr.nlm.nih.gov/condition/benign-essential-blepharospasm/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/benign-essential-blepharospasm/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about benign essential blepharospasm?

You may find the following resources about benign essential blepharospasm helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for benign essential blepharospasm?

  • essential blepharospasm
  • eyelid twitching
  • primary blepharospasm
  • spasm of eyelids

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about benign essential blepharospasm?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding benign essential blepharospasm?

autosomal ; autosomal dominant ; benign ; cell ; dystonia ; gene ; inheritance ; involuntary ; pattern of inheritance ; sporadic ; stress ; syndrome ; writer's cramp

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Ben Simon GJ, McCann JD. Benign essential blepharospasm. Int Ophthalmol Clin. 2005 Summer;45(3):49-75. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15970766?dopt=Abstract)
  • Defazio G, Berardelli A, Hallett M. Do primary adult-onset focal dystonias share aetiological factors? Brain. 2007 May;130(Pt 5):1183-93. Epub 2007 Jan 22. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17242025?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/12539217?dopt=Abstract)
  • Defazio G, Livrea P. Epidemiology of primary blepharospasm. Mov Disord. 2002 Jan;17(1):7-12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11835433?dopt=Abstract)
  • Defazio G, Livrea P. Primary blepharospasm: diagnosis and management. Drugs. 2004;64(3):237-44. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14871168?dopt=Abstract)
  • Defazio G, Martino D, Aniello MS, Masi G, Abbruzzese G, Lamberti S, Valente EM, Brancati F, Livrea P, Berardelli A. A family study on primary blepharospasm. J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):252-4. (http://www.ncbi.nlm.nih.gov/pubmed/16421132?dopt=Abstract)
  • Grandas F, Elston J, Quinn N, Marsden CD. Blepharospasm: a review of 264 patients. J Neurol Neurosurg Psychiatry. 1988 Jun;51(6):767-72. (http://www.ncbi.nlm.nih.gov/pubmed/3404184?dopt=Abstract)
  • Hallett M, Evinger C, Jankovic J, Stacy M; BEBRF International Workshop. Update on blepharospasm: report from the BEBRF International Workshop. Neurology. 2008 Oct 14;71(16):1275-82. doi: 10.1212/01.wnl.0000327601.46315.85. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18852443?dopt=Abstract)
  • Hallett M. Blepharospasm: recent advances. Neurology. 2002 Nov 12;59(9):1306-12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12434791?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2010
Published: October 20, 2014