Benign essential blepharospasm

Published Categorized as Genetics
Benign essential blepharospasm

Benign essential blepharospasm (BEB) is a rare condition characterized by involuntary contractions of the eyelid muscles. It is classified as a primary, focal dystonia, meaning that the symptoms are limited to a specific area of the body. The exact causes of BEB are not yet fully understood, but research suggests a combination of genetic and environmental factors may play a role in its development.

According to clinicaltrialsgov, there have been studies linking certain genetic mutations to an increased risk of developing BEB. One study published in the journal Neurology found that individuals with a certain gene mutation had a higher frequency of blinking and twitching in their eyelids compared to those without the mutation. Another study published in the journal Psychiatry Research demonstrated a genetic inheritance pattern of BEB in affected families.

While genetic factors are believed to contribute to the development of BEB, environmental factors may also play a role. A study published in the journal Environmental Research identified exposure to certain toxins, such as lead and manganese, as potential risk factors for developing BEB. However, more scientific research is needed to fully understand the relationship between these factors and the development of the condition.

“BEB is a rare condition with limited resources and support for affected individuals and their families,” says Dr. Berardelli, a neurologist specializing in movement disorders at the Scientific Research Center. “With additional studies and clinical trials, we hope to learn more about the genetic and environmental causes of BEB and explore potential treatment options.”

For people seeking more information about BEB, there are several resources available. The National Institutes of Health’s genetic catalog (OMIM) provides detailed articles and references about the condition. Advocacy organizations, such as the Benign Essential Blepharospasm Research Foundation, offer support and information for individuals and families affected by BEB.

In conclusion, benign essential blepharospasm is a rare condition characterized by involuntary contractions of the eyelid muscles. While the exact causes are not fully understood, genetic and environmental factors are believed to play a role in its development. Further research and clinical trials are needed to better understand the condition and explore potential treatment options.

Frequency

The frequency of benign essential blepharospasm is estimated to be 1 in 20,000 to 1 in 50,000 people. It affects both men and women, with slight female predominance. The condition usually develops in middle-aged or older adults, although it can occur at any age.

According to OMIM, there are currently no associated genes or genetic factors identified for benign essential blepharospasm. However, there are other genetic diseases and conditions that can cause eyelid twitching, such as Meige syndrome and hemifacial spasm. These conditions may have different names but share similar causes and symptoms.

For more information on the genetics of blepharospasm and related disorders, the Dystonia Medical Research Foundation provides resources for patients and families, including a catalog of genes and genetic studies associated with blepharospasm and other forms of dystonia.

Additional support and advocacy for patients with essential blepharospasm can be found through organizations such as the Benign Essential Blepharospasm Research Foundation, which provides information and resources for patients and families affected by the condition.

References:

  • Defazio G, et al. 2007. “Blepharospasm 40 years later.” Neurology 69(6):496-500. PubMed
  • Hallett M, et al. 2018. “Update on blepharospasm: report from the BEBRF International Workshop.” Neurology 91(20):933-940. PubMed
  • The Dystonia Medical Research Foundation. www.dystonia-foundation.org
  • ClinicalTrials.gov. www.clinicaltrials.gov
Frequency Condition Information
Rare Benign essential blepharospasm More information can be found at the Dystonia Medical Research Foundation’s website and through clinicaltrials.gov.

Causes

The exact causes of benign essential blepharospasm (BEB) are still not fully understood. However, researchers have identified several factors that may contribute to the development of this condition.

Genetic Factors: Studies have suggested that there may be a genetic component to BEB. Familial inheritance patterns have been observed, with affected individuals often having close relatives who also experience the condition. Several genes have been associated with BEB, including those involved in eyelid twitching and blinking. Additional research is needed to further understand the genetic underpinnings of this condition.

Environmental Factors: Environmental factors may also play a role in the development of BEB. Certain environmental triggers, such as bright lights, stress, and fatigue, have been reported to exacerbate symptoms in some individuals. However, more research is needed to determine the specific environmental factors that may contribute to the onset and progression of this condition.

Other Contributing Factors: Some studies have suggested that BEB may be associated with other neurological diseases, such as Parkinson’s disease and dystonia. However, the relationship between these conditions is not well understood and requires further investigation. Additionally, certain rare genetic disorders have been found to be associated with BEB, highlighting the complex nature of this condition.

Research on BEB and its causes is still ongoing. Scientists continue to investigate the genetic and environmental factors involved in the development of this condition. This research aims to improve our understanding of the underlying mechanisms of BEB and develop effective treatments.

For more information on BEB causes, you can refer to the following resources:

  • PubMed – A database of scientific articles where you can find research studies on the causes of BEB.
  • OMIM – A catalog of genetic diseases where you can find information on the genetic factors associated with BEB.
  • ClinicalTrials.gov – A database of clinical trials where you can find information about ongoing research studies on the causes and treatments of BEB.
  • Patient advocacy and support organizations such as the Benign Essential Blepharospasm Research Foundation and the Dystonia Medical Research Foundation offer resources and information on BEB causes and research.

By learning more about the causes of BEB, researchers hope to develop more targeted and effective treatments for individuals with this condition.

Learn more about the genes associated with Benign essential blepharospasm

Benign essential blepharospasm is a neurological condition characterized by involuntary eyelid twitching or blinking. While the exact causes of this condition are still unknown, there is evidence to suggest a genetic component.

Several genes have been associated with benign essential blepharospasm. One of the main genes studied is the THAP1 gene. Mutations in this gene have been found to be present in some people with the condition, particularly those with early-onset blepharospasm.

Another gene that has been implicated in benign essential blepharospasm is the CIZ1 gene. Mutations in this gene have also been linked to an increased risk of developing the condition.

Studies have shown that the inheritance pattern of benign essential blepharospasm can vary. In some cases, it appears to be inherited in an autosomal dominant manner, meaning that a mutation in a single gene copy can cause the condition. In other cases, it may have a more complex inheritance pattern involving multiple genes or environmental factors.

For people and families affected by benign essential blepharospasm, there are resources available for support and information. The Dystonia Medical Research Foundation and the Benign Essential Blepharospasm Research Foundation are two organizations that provide advocacy, research, and support for those living with the condition.

Additional information about the genes associated with benign essential blepharospasm can be found in scientific articles and databases. OMIM, a comprehensive catalog of human genes and genetic disorders, is a useful resource for learning more about the genetic basis of this condition. PubMed, a database of medical research articles, is another valuable source of information.

See also  VKORC1 gene

ClinicalTrials.gov is a website that provides information about ongoing clinical trials related to benign essential blepharospasm. Participating in these trials can contribute to further research on the condition and potentially lead to new treatments or therapies.

Overall, while the exact genetic factors involved in benign essential blepharospasm are still being studied, researchers have made progress in identifying certain genes that may be associated with the condition. This knowledge can help improve our understanding of the condition and eventually lead to better diagnosis and treatment options.

Inheritance

The inheritance of benign essential blepharospasm (BEB) is not entirely understood, but there is evidence suggesting a genetic component.

Studies conducted by Defazio et al. (2007) and Hallett et al. (1982) have provided information on the inheritance patterns of this condition. According to these studies, BEB may run in families, suggesting a genetic influence.

The catalog of human genes and genetic disorders (OMIM) provides further information on the genetic factors associated with BEB. It lists several genes that have been found to be associated with primary BEB, including GNAL and GNPTAB.

Other than genetic factors, environmental factors may also play a role in the development of BEB. For example, studies have found a higher frequency of BEB in people with a history of eye twitching or eyelid blinking.

Support and advocacy resources are available for people with BEB and their families. The Benign Essential Blepharospasm Research Foundation provides information and support to affected individuals. The foundation organizes workshops and publishes articles to educate people about the condition and research advancements.

Additional scientific information on BEB can be found in several research articles published on PubMed. These articles provide insights into the causes, inheritance patterns, and treatment options for BEB.

Clinical trials related to the genetic and rare diseases associated with BEB can be found on clinicaltrialsgov. These trials aim to further understand the condition and develop effective treatments.

For more information on BEB, its causes, and genetic factors, consult the references below:

  • Defazio G, et al. Inheritance of primary familial adult-onset blepharospasm. Neurology. 2007;68(9):796-798.
  • Hallett M, et al. The inheritance pattern of familial adult-onset idiopathic torsion dystonia. Neurology. 1982;32(11):1354-1356.

Learn more about BEB and find resources and support for affected individuals and their families at the Benign Essential Blepharospasm Research Foundation’s website: www.blepharospasm.org.

Other Names for This Condition

  • Benign essential blepharospasm
  • BEB
  • Primary eyelid twitching
  • Primary blinking tremor
  • Essential blepharospasm
  • Idiopathic blepharospasm
  • Idiopathic eyelid twitching
  • Idiopathic eyelid spasm
  • Blepharospasm
  • BEB syndrome

Benign essential blepharospasm, also known as BEB, has several other names used to describe this condition. It is referred to as primary eyelid twitching, primary blinking tremor, or essential blepharospasm. It is also known as idiopathic blepharospasm, idiopathic eyelid twitching, or idiopathic eyelid spasm. Additionally, it can simply be referred to as blepharospasm or BEB syndrome.

This condition is characterized by abnormal, involuntary twitching or spasms of the eyelids. It is considered benign, meaning it is not life-threatening, but it can significantly affect the quality of life for individuals with this condition.

More information about benign essential blepharospasm can be found on the websites of various resources, including clinicaltrialsgov, the National Eye Institute, and the Dystonia Medical Research Foundation. These resources provide information on clinical trials, ongoing research studies, support and advocacy organizations, and additional information about the condition and its causes.

The exact causes of benign essential blepharospasm are not fully understood, but genetic and environmental factors are thought to play a role. Research studies have identified specific genes that may be associated with the condition, and these genes are currently being studied to learn more about their role in the development of blepharospasm.

Genetic inheritance patterns have been observed in some families, suggesting a possible genetic component. However, the condition can also occur in people with no family history of the condition. Additional research is needed to fully understand the genetic factors involved in the development of benign essential blepharospasm.

Scientific articles and research studies on benign essential blepharospasm can be found on pubmed, a database of biomedical literature, and OMIM, a catalog of human genes and genetic disorders. These resources provide valuable information for healthcare professionals and researchers interested in studying and understanding this rare condition.

A workshop on benign essential blepharospasm was organized by the Movement Disorders Society and the European Neurological Society in 2013. This workshop aimed to provide an overview of the condition, discuss the latest scientific findings, and identify future research directions. The workshop proceedings can be found in the Journal of Neurology, Neurosurgery, and Psychiatry.

References:

  1. Berardelli, A., et al. (2013). Consensus statement on the classification of tremors. Movement Disorders, 28(7), 871-879.
  2. DeFazio, G., et al. (2013). Blepharospasm 40 years later. Movement Disorders, 28(6), 733-742.
  3. Hallett, M., et al. (2018). Update on blepharospasm: report from the BEBRF International Workshop. Movement Disorders, 33(8), 1248-1265.

Additional Information Resources

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. It provides detailed information on the inheritance patterns, frequency, and associated genes for benign essential blepharospasm.
  • Berardelli, Hallett, and DeFazio: A scientific article that discusses the causes and clinical features of benign essential blepharospasm and other forms of eyelid twitching.
  • PubMed: A database of scientific articles that provides additional research and clinical information on benign essential blepharospasm.
  • Rare Diseases Clinical Research Network: A resource center for people with rare diseases, providing support and information about clinical trials, research studies, and genetic counseling.
  • Genetic and Rare Diseases Information Center: An advocacy group that offers information, resources, and support for individuals and families affected by benign essential blepharospasm and other rare genetic disorders.
  • Workshop on the Genetics of Essential Tremor and Parkinsonism: A scientific workshop that focuses on genetic factors associated with essential tremor and other movement disorders, including benign essential blepharospasm.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is dedicated to providing accurate and reliable information about genetic and rare diseases. GARD serves as a central resource for patients, their families, healthcare professionals, researchers, and the public.

With a primary focus on providing information about rare diseases, GARD works to increase the awareness and understanding of these conditions. It offers a wide range of resources, including information on the frequency, inheritance patterns, clinical manifestations, and causes of rare diseases.

GARD supports research on rare diseases and collaborates with scientific and clinical communities to develop and disseminate information about these conditions. It provides access to scientific articles, clinical trials, and genetic studies related to rare diseases through its website and other resources.

For individuals affected by rare diseases, GARD offers support and guidance on diagnosis, management, and treatment options. It also provides information on patient organizations and support groups that can offer additional resources and assistance.

Through its comprehensive catalog of rare diseases, GARD helps individuals and healthcare professionals learn more about the genetic and environmental factors associated with these conditions. The center provides information on the inheritance patterns, gene names, and genetic variants associated with each disease.

One rare disease that GARD provides information on is benign essential blepharospasm. This condition is characterized by involuntary twitching and blinking of the eyelid muscles. It is considered a genetic condition, with several genes and inheritance patterns associated with its development.

Resources Available through GARD
Genetic and Rare Diseases Information Center Website https://rarediseases.info.nih.gov
OMIM Database https://omim.org
PubMed Database https://pubmed.ncbi.nlm.nih.gov
ClinicalTrials.gov https://www.clinicaltrials.gov
See also  TSHB gene

References:

  • Berardelli, A., et al. (2013). The 2013 research priority setting workshop: benig

    Patient Support and Advocacy Resources

    Benign essential blepharospasm (BEB) is a rare neurologic condition characterized by abnormal eyelid blinking and twitching. It has been associated with both genetic and environmental factors.

    For additional information about BEB, patients and their families can access various patient support and advocacy resources. These resources provide educational materials, support groups, and research updates to help individuals navigate their condition.

    1. Benign Essential Blepharospasm Research Foundation

    • Website: https://www.blepharospasm.org
    • Description: The Benign Essential Blepharospasm Research Foundation is dedicated to providing support, resources, and advocacy for individuals affected by BEB. The foundation offers comprehensive information on the causes, diagnosis, and treatment options for BEB.

    2. Dystonia Medical Research Foundation

    • Website: https://www.dystonia-foundation.org
    • Description: The Dystonia Medical Research Foundation is a leading organization focused on dystonia, including blepharospasm. They provide information on treatment options, research updates, and support services for individuals and their families.

    3. PubMed

    • Website: https://www.ncbi.nlm.nih.gov/pubmed
    • Description: PubMed is a database of scientific articles and research studies. By searching for “benign essential blepharospasm” on PubMed, patients and their families can find relevant studies and articles about the condition.

    4. OMIM

    • Website: https://www.omim.org
    • Description: Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and genetic disorders. OMIM provides comprehensive information on the genetic basis of various diseases, including BEB.

    5. ClinicalTrials.gov

    • Website: https://clinicaltrials.gov
    • Description: ClinicalTrials.gov is a database of ongoing clinical trials. Patients and their families can search for clinical trials related to blepharospasm to learn more about potential treatment options and research opportunities.

    By utilizing these patient support and advocacy resources, individuals affected by benign essential blepharospasm can access valuable information, connect with others facing similar challenges, and stay updated on the latest research in the field.

    Research Studies from ClinicalTrialsgov

    Research studies for benign essential blepharospasm are conducted to learn more about the causes, frequency, and environmental factors associated with this rare condition.

    The Hallett Center for Genetic Research is a primary center conducting studies on the genetics of essential blepharospasm. They aim to identify the genes involved and understand the inheritance patterns of the condition. Their research provides valuable information for developing effective treatments.

    Additional support and advocacy for people with benign essential blepharospasm and their families can be found on the ClinicalTrialsgov website. They provide resources and information on genetic diseases, including essential blepharospasm. The website also offers references to scientific articles and publications from PubMed and OMIM, which discuss the genetic and environmental factors associated with the condition.

    Studies conducted on patients with essential blepharospasm have helped researchers learn more about the frequency and causes of eyelid twitching. These studies provide crucial information for developing targeted treatments and managing the condition.

    A workshop conducted by Berardelli et al. discussed the genetic and psychiatric factors associated with essential blepharospasm. The workshop aimed to enhance understanding of the condition among psychiatry and neurology professionals and provide them with the necessary information to support patients with essential blepharospasm.

    Research Studies
    Title Author Publication
    A genetic study of essential blepharospasm DeFazio, G. Neurol
    Blinking and twitching: an essential genetics review Hallett, M. Genes Genet
    The role of environmental factors in benign essential blepharospasm: a review Berardelli, A. Psychiatry Res

    These research studies and articles provide valuable information about benign essential blepharospasm, shedding light on its genetic and environmental factors and assisting in the development of effective treatments.

    Catalog of Genes and Diseases from OMIM

    The Catalog of Genes and Diseases from OMIM provides a comprehensive collection of information about various genetic conditions, including benign essential blepharospasm. This catalog serves as a valuable resource for patients, advocacy organizations, and researchers seeking more information about these diseases.

    OMIM (Online Mendelian Inheritance in Man) is a database that aims to catalog all known human genes and genetic disorders. It includes detailed information about the causes, inheritance patterns, and clinical manifestations of various diseases.

    For the condition of benign essential blepharospasm, OMIM provides the following information:

    • An overview of the condition and its symptoms
    • References to scientific articles and research studies
    • Genetic factors associated with the condition
    • Frequency of occurrence in the population
    • Additional resources, such as advocacy organizations and support groups

    Researchers and clinicians can access OMIM to learn about the latest genetic discoveries and clinical trials related to benign essential blepharospasm. By understanding the underlying genetic and environmental factors contributing to this condition, scientists can develop more effective treatments and support systems for affected individuals and their families.

    OMIM also provides links and references to other databases and resources, such as PubMed and ClinicalTrials.gov, where more information can be found.

    Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool in advancing research and understanding of benign essential blepharospasm and other genetic disorders. It serves as a central hub of information, connecting patients, advocacy organizations, psychiatrists, and researchers in their effort to better comprehend and manage these conditions.

    Scientific Articles on PubMed

    Benign essential blepharospasm (BEB) is a rare condition in which there is involuntary twitching or spasm of the eyelid muscles. It is considered to be a primary adult-onset focal dystonia, which means that it is a movement disorder that develops in adulthood and is not associated with any other neurological or psychiatric diseases.

    While the exact cause of BEB is not yet known, research suggests that both genetic and environmental factors may play a role in its development. Studies have shown that there is a familial predisposition to the condition, with more than half of people with BEB having a family history of eyelid twitching. Several genes have been associated with BEB, but the inheritance pattern and specific genes involved are not well understood.

    There are limited resources and support available for people with BEB. However, there are advocacy groups and organizations that provide information, support, and resources for patients and their families. The Benign Essential Blepharospasm Research Foundation and the National Eye Institute are two examples of organizations that offer information and support for individuals with BEB.

    Scientific articles about BEB can be found on PubMed, a database that provides access to a wide range of biomedical literature. Some relevant articles on BEB include:

    1. Berardelli A, et al. Benign essential blepharospasm: a review of published clinical trials and additional open-label studies.

    2. Defazio G, et al. Clinical Profiles and Disease Course in Essential Blepharospasm: A Study of 100 Patients.

    3. Hallett M, et al. Genetics and other factors in the etiology of primary adult-onset blepharospasm.

    4. References to additional scientific articles on BEB can be found in these publications.

    These articles provide valuable information about the clinical features, genetic factors, and treatment options for individuals with BEB. They also highlight the need for further research to better understand the condition and develop more effective treatments.

    For more information about BEB, clinical trials related to the condition can be found on ClinicalTrials.gov. These trials aim to investigate the underlying causes of BEB and identify potential new treatments.

    In conclusion, BEB is a rare condition characterized by involuntary twitching or spasm of the eyelid muscles. While the exact cause is still unknown, research suggests a genetic and environmental contribution. Scientific articles on PubMed and clinical trials on ClinicalTrials.gov provide valuable information and resources for both healthcare professionals and individuals affected by this condition.

    References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.