Blepharospasm

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U.S. Department of Health & Human Services

Genetic and Rare Diseases Information Center (GARD)

BEB
Benign Essential Blepharospasm

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Blepharospasm
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Benign essential blepharospasm is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. Benign essential blepharospasm occurs in both men and women, although it is especially common in middle-aged and elderly women. Most cases are treated with botulinum toxin injections.^[1] The exact cause of benign essential blepharospasm is unknown.^[2]

References

NINDS Benign Essential Blepharospasm Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2007 Available at: http://www.ninds.nih.gov/disorders/blepharospasm/blepharospasm.htm. Accessed July 22, 2009.
Hallett M. Blepharospasm, Benign Essential. National Organization for Rare Disorders (NORD). 2007 Available at: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Blepharospasm%2C%20Benign%20Essential. Accessed June 22, 2009.

Questions & Answers (Found 1 Question)

A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.

Approximately how many people in the United States have benign essential blepharospasm? ( Click here for answer)

For more information about Blepharospasm click on the boxes below:

More Detailed Information	Organizations	Medical Products	Services	Scientific Conferences	Clinical Trials & Research


More Detailed Information (Found 6 resources) Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer General Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free. The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic. The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic. The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic. The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Blepharospasm. Click on the link to go to OMIM and review these resources. PubMed is a searchable database of medical literature and lists journal articles that discuss Blepharospasm. Click on the link to view a sample search on this topic.

More Detailed Information (Found 6 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer

General
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Blepharospasm. Click on the link to go to OMIM and review these resources.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Blepharospasm. Click on the link to view a sample search on this topic.

Organizations Providing General Support \| Social Networking Websites
Organizations (Found 7 resources) Groups providing a wide range of services, supportive resources, and information. Disclaimer Benign Essential Blepharospasm Research Foundation 637 North 7th Street, Suite 102 PO Box 12468 Beaumont, TX 77726-2468 Phone: 409-832-0788 Fax: 409-832-0890 Email: bebrf@blepharospasm.org Web: http://www.blepharospasm.org Dystonia Medical Research Foundation 1 East Wacker Drive Chicago IL 60601-1905 Toll free: 800-377-3978 Telephone: 312-755-0198 E-mail: dystonia@dystonia-foundation.org Web site: http://www.dystonia-foundation.org Organizations Providing General Support Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Social Networking Websites DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story. Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/ RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.

Organizations Providing General Support | Social Networking Websites

Organizations (Found 7 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer

- Benign Essential Blepharospasm Research Foundation
  637 North 7th Street, Suite 102
  PO Box 12468
  Beaumont, TX 77726-2468
  Phone: 409-832-0788
  Fax: 409-832-0890
  Email: bebrf@blepharospasm.org
  Web: http://www.blepharospasm.org
- Dystonia Medical Research Foundation
  1 East Wacker Drive
  Chicago IL 60601-1905
  Toll free: 800-377-3978
  Telephone: 312-755-0198
  E-mail: dystonia@dystonia-foundation.org
  Web site: http://www.dystonia-foundation.org
Organizations Providing General Support
- Genetic Alliance
  4301 Connecticut Avenue NW
  Suite 404
  Washington, DC 20008-2369
  Telephone: 202-966-5557
  Fax: 202-966-8553
  E-mail: info@geneticalliance.org
  Web site: http://www.geneticalliance.org
- National Organization for Rare Disorders (NORD)
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll-free: 1-800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TTY: 203-797-9590
  Fax: 203-798-2291
  E-mail: orphan@rarediseases.org
  Web site: http://www.rarediseases.org/
Social Networking Websites
- DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story.
- Madisons Foundation
  P.O. Box 241956
  Los Angeles, CA 90024
  Telephone: 310-264-0826
  Fax: 310-264-4766
  E-mail: getinfo@madisonsfoundation.org
  Web site: http://www.madisonsfoundation.org/
- RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.

Medical Products (Found 1 resource)
Disclaimer

U.S. Food and Drug Administration

The Office of Orphan Products Development (OOPD)

The medications listed in the table below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search all FDA approved drugs, visit Drugs@FDA You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.

Generic Name	Trade Name (Manufacturer Name)	Indication	Resources
Botulinum toxin type A	Botox® (Allergan, Inc.)	Treatment of cervical dystonia in adults to decrease the severity of abnormal head position and neck pain associated with cervical dystonia. Treatment of blepharospasm or strabismus associated with dystonia in adults (patients 12 years of age and above).	Drug Information Portal MedlinePlus

Testing \| Parent Resources
Services (Found 3 resources) Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more. Testing The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Parent Resources The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.

Testing | Parent Resources

Services (Found 3 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer

- Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.
Testing
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Parent Resources
- The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.


Scientific Conferences (Found 2 resources) Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer Past Conferences RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012 Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases. VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010 Location: Palais Rouge Convention Center, Palermo, Buenos Aires Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.

Scientific Conferences (Found 2 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer

Past Conferences
- RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
  Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
  Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
- VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
  Location: Palais Rouge Convention Center, Palermo, Buenos Aires
  Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.


Clinical Trials & Research (Found 4 resources) Resources where you may find research studies and clinical trials. Disclaimer ClinicalTrials.gov lists trials that are studying or have studied Blepharospasm. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies. NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate. Patient Registry The Dystonia Coalition is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with cervical dystonia, blepharospasm, spasmodic dysphonia, craniofacial dystonia, and limb dystonia through research. The Dystonia Coalition has a registry for patients who wish to be contacted about clinical research opportunities. For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

Clinical Trials & Research (Found 4 resources)
Resources where you may find research studies and clinical trials. Disclaimer

- ClinicalTrials.gov lists trials that are studying or have studied Blepharospasm. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
Patient Registry
- The Dystonia Coalition is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with cervical dystonia, blepharospasm, spasmodic dysphonia, craniofacial dystonia, and limb dystonia through research. The Dystonia Coalition has a registry for patients who wish to be contacted about clinical research opportunities.
  
  For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm
- ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.