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Unverricht-Lundborg disease

Unverricht-Lundborg disease, also known as cystatin B myoclonus epilepsy, is a rare genetic condition that is inherited in an autosomal recessive manner. It is characterized by myoclonic episodes, which are brief, shock-like jerks of the muscles.

The frequency and progression of these episodes can vary from person to person. Some individuals may have several episodes per day, while others may only experience them occasionally. In some cases, the myoclonus may be accompanied by other symptoms, such as ataxia or cognitive decline.

The cause of Unverricht-Lundborg disease is a mutation in the cystatin B gene. This gene encodes a protein called cystatin B, which plays a role in regulating the activity of certain enzymes in the brain.

There is currently no cure for Unverricht-Lundborg disease, and treatment is usually focused on managing the symptoms. Medications such as antiepileptic drugs may be prescribed to help control the myoclonic episodes. Physical therapy and assistive devices may also be beneficial in improving mobility and quality of life.

For more information about Unverricht-Lundborg disease, you can visit the websites of various resources, such as the National Institute of Neurological Disorders and Stroke, PubMed, or OMIM. These websites provide access to scientific articles, clinical trials, and other research on the disease.

Support and advocacy groups, such as the Unverricht-Lundborg Foundation, can also provide additional resources and support for individuals and families affected by this condition.

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Frequency

Unverricht-Lundborg disease is a rare condition, with a frequency of about 1 per 20,000 to 1 per 100,000 individuals worldwide. It is more common in certain populations, particularly those in Finland and the Mediterranean region.

Unverricht-Lundborg disease is inherited in an autosomal recessive manner, which means that individuals with the disease usually have two copies of the abnormal gene, one inherited from each parent. The responsible gene for Unverricht-Lundborg disease is called the CSTB gene, which provides instructions for the production of a protein called cystatin B.

Additional information about Unverricht-Lundborg disease can be found in the OMIM and PubMed databases, as well as other scientific articles and genetic resources. Advocacy and patient support organizations can also provide resources and information for individuals and families affected by the disease.

Clinical trials and research studies are ongoing to learn more about the causes, progression, and treatment of Unverricht-Lundborg disease. Information on these studies and testing options can be found on websites such as ClinicalTrials.gov.

References:

  • Alakurtti, K., Koskenkorva, P., & Lehesjoki, A. E. (2018). Unverricht-Lundborg disease. In GeneReviews®. Seattle (WA): University of Washington, Seattle.
  • Darcel, F., Labauge, P., Zanca, M., & Depienne, C. (2021). “Unverricht-Lundborg Disease.” In StatPearls. StatPearls Publishing.

Causes

The Unverricht-Lundborg disease, also known as progressive myoclonus epilepsy 1A (EPM1A), is a rare genetic condition with an autosomal recessive inheritance pattern. It is caused by mutations in the cystatin B gene ( CSTB ) located on chromosome 21. This gene provides instructions for making the cystatin B protein, which plays a role in regulating the activity of enzymes within cells.

The frequency of Unverricht-Lundborg disease varies among different populations, but it is estimated to affect about 1 in 20,000 to 1 in 50,000 individuals. The condition is more common in certain geographic regions, such as Finland, where the prevalence is higher due to a founder effect.

The disease was first described by a Finnish physician, B.L. Unverricht, in 1891, and later further characterized by Swedish physician Tage K.G. Lundborg in 1930. It has been cataloged in the Online Mendelian Inheritance in Man (OMIM) database and is also known by other names, including Baltic myoclonus, EPM1, progressive myoclonus epilepsy type 1, or PME1.

The exact mechanism by which cystatin B mutations lead to the development of Unverricht-Lundborg disease is not fully understood. However, it is believed that the abnormal cystatin B protein disrupts the normal function of enzymes involved in cellular processes, leading to the accumulation of toxic substances and the subsequent degeneration of neurons in certain brain regions.

ClinicalTrials.gov provides references to ongoing clinical studies investigating the genetics of Unverricht-Lundborg disease, as well as potential treatments and management strategies. These studies aim to improve understanding of the disease, identify additional genes associated with it, and develop more effective therapies.

Increased research and advocacy efforts have led to greater awareness and resources for rare genetic diseases like Unverricht-Lundborg disease. Patients and their families can find information, support, and assistance from organizations such as the National Organization for Rare Disorders (NORD) and patient advocacy groups.

Testing for mutations in the CSTB gene can confirm a diagnosis of Unverricht-Lundborg disease. Genetic counseling is recommended for individuals and families who may be carriers of the mutated gene, as they have a higher risk of passing on the condition to their children.

Although there is currently no cure for Unverricht-Lundborg disease, treatment focuses on managing symptoms and improving quality of life. Medications can help reduce the frequency and severity of myoclonic episodes, and physical and occupational therapy can support mobility and functional abilities.

Additional studies and research are needed to further understand the causes and progression of Unverricht-Lundborg disease, as well as to develop new therapeutic approaches. Advances in genetic testing, gene therapy, and other treatment modalities offer hope for improved outcomes and quality of life for individuals affected by this rare condition.

See also  Klippel-Feil syndrome

For more information, resources, and articles on Unverricht-Lundborg disease and other genetic diseases, references can be found in scientific journals and databases such as PubMed, OMIM, and ClinicalTrials.gov.

Learn more about the gene associated with Unverricht-Lundborg disease

Unverricht-Lundborg disease is a rare condition characterized by myoclonic epilepsy, which is a type of epilepsy that causes sudden, brief, and shock-like muscle jerks or twitches called myoclonus. This disease usually starts in childhood or adolescence and progresses over time.

The gene associated with Unverricht-Lundborg disease is called “Cystatin B,” which is also known by other names such as “CSTB” or “EPM1”. The CSTB gene provides instructions for making a protein called cystatin B, which helps regulate the activity of enzymes involved in controlling cell death and survival.

Unverricht-Lundborg disease is inherited in an autosomal recessive pattern, which means that an individual must inherit a copy of the mutated CSTB gene from both parents to develop the condition. This gene mutation disrupts the normal functioning of cystatin B, leading to the accumulation of toxic substances and the death of certain cells in the brain.

Research suggests that the abnormal buildup of toxic substances in the brain may cause the myoclonus and other symptoms associated with Unverricht-Lundborg disease. However, the exact mechanisms by which this occurs are still not fully understood.

Genetic testing can be done to confirm a diagnosis of Unverricht-Lundborg disease by identifying mutations in the CSTB gene. This testing can also inform genetic counseling and help with family planning decisions.

For more information about Unverricht-Lundborg disease, its causes, progression, and treatment options, you can visit the following resources:

  • The Unverricht-Lundborg Disease Scientific Catalog (ULDSC), which provides additional information and resources for patients, caregivers, and researchers
  • PubMed and OMIM for scientific articles and references on this rare condition
  • ClinicalTrials.gov for ongoing studies and clinical trials related to the treatment and management of Unverricht-Lundborg disease
  • Advocacy organizations such as Unverricht-Lundborg Foundation and Myoclonus Research Foundation, which offer support, information, and resources for individuals and families affected by myoclonic epilepsy and related diseases

By learning more about the gene associated with Unverricht-Lundborg disease, we can better understand the underlying mechanisms and potentially develop improved treatments for this rare condition.

Inheritance

Unverricht-Lundborg disease is inherited in an autosomal recessive manner. This means that both copies of the gene responsible for the condition must be altered in order to develop the disease. Individuals with only one altered copy of the gene are carriers and typically do not show any symptoms of the condition.

The condition is caused by mutations in the CSTB gene, which provides instructions for making a protein called cystatin B. The altered cystatin B protein is unable to perform its normal function, leading to the development of Unverricht-Lundborg disease.

Each child of two carriers has a 25% chance of inheriting two altered copies of the gene, and therefore developing the disease. Each child has a 50% chance of inheriting only one altered copy of the gene and becoming a carrier, and a 25% chance of inheriting two normal copies of the gene.

Unverricht-Lundborg disease is a rare condition, and inheritance can be more difficult to predict in cases where there is no family history of the disease. Genetic testing can provide more information about the specific inheritance pattern in each individual case.

For more information about the inheritance of Unverricht-Lundborg disease, you can visit the following resources:

  • OMIM – Unverricht-Lundborg disease
  • ClinicalTrials.gov – Search for clinical trials studying Unverricht-Lundborg disease
  • GeneTests.org – Search for genetic testing information for Unverricht-Lundborg disease
  • PubMed – Search for additional articles on Unverricht-Lundborg disease
  • Myoclonus Research Foundation – Support and advocacy for individuals with myoclonic diseases, including Unverricht-Lundborg disease

Other Names for This Condition

Unverricht-Lundborg disease goes by several other names:

  • EPM1A
  • Finnish Myoclonus Epilepsy
  • Baltic myoclonus epilepsy
  • Progressive myoclonic epilepsy type 1
  • Myoclonic Epilepsy with Lafora Bodies

These alternate names reflect the extensive research and studies conducted on this condition and the associated myoclonus diseases. These names provide more information about the genetic causes, inheritance patterns, progression, and frequency of the condition.

ClinicalTrials.gov and other clinical trial resources usually use these names to reference the condition for research purposes and to support advocacy with patient information and rare disease resources.

Additional Information Resources

Here is a list of additional resources for Unverricht-Lundborg disease:

  • Cystatin B Gene – The genetic cause of Unverricht-Lundborg disease is a mutation in the cystatin B gene. To learn more about this gene, you can visit the OMIM (Online Mendelian Inheritance in Man) catalog.
  • Genetic Testing – Genetic testing is available to diagnose Unverricht-Lundborg disease. For more information on testing, you can visit the PubMed database.
  • Clinical Trials – There are ongoing clinical trials for Unverricht-Lundborg disease that investigate potential treatments and therapies. To find out about the latest studies, visit ClinicalTrials.gov.
  • Support and Advocacy – There are several organizations and advocacy groups that provide support and resources for patients and families affected by Unverricht-Lundborg disease. Some of these include the Epilepsy Foundation and the National Organization for Rare Disorders (NORD). They may have information on support groups, educational materials, and other resources.
  • Scientific Articles – There are many scientific articles and research studies available on Unverricht-Lundborg disease. You can search for these articles on databases like PubMed or Google Scholar using keywords like “Unverricht-Lundborg disease,” “myoclonus epilepsy,” or “cystatin B gene.”

Remember to consult with a healthcare professional or genetic counselor for more detailed and personalized information about your specific condition.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis of Unverricht-Lundborg disease. It allows healthcare providers to identify the specific genetic mutations that are associated with the disease. By understanding the genetic basis of the disease, healthcare providers can better understand its causes, progression, and treatment options.

There are several genetic testing resources available for individuals who suspect they may have Unverricht-Lundborg disease. One of the most commonly used resources is PubMed, a database of scientific articles. PubMed provides access to a wealth of studies and references about the disease, allowing patients to learn more about the condition and the associated genes.

See also  MUTYH gene

Another important resource is OMIM (Online Mendelian Inheritance in Man), which provides information on the genetic basis of rare diseases. OMIM contains detailed information about Unverricht-Lundborg disease, including its associated genes and inheritance patterns. It offers comprehensive information on the disease, including clinical features, genetic mutations, and information on ongoing research.

In addition to these resources, there are advocacy and support organizations that offer genetic testing information for Unverricht-Lundborg disease. These organizations work to raise awareness about the disease and connect patients with the resources they need. They may provide additional information on genetic testing centers, clinical trials, and research studies.

Genetic testing for Unverricht-Lundborg disease usually involves analyzing the CSTB gene, which encodes a protein called cystatin B. Mutations in the CSTB gene are known to cause the characteristic myoclonus episodes associated with the disease. By analyzing the CSTB gene, healthcare providers can determine whether a patient has the genetic mutations that are associated with Unverricht-Lundborg disease.

It is important to note that genetic testing is not always necessary for a diagnosis of Unverricht-Lundborg disease. In some cases, the disease can be diagnosed based on clinical features and a patient’s medical history. However, genetic testing can provide additional information and may be useful in certain situations, such as when the diagnosis is uncertain or when there is a family history of the disease.

Overall, genetic testing is an important tool in the diagnosis and management of Unverricht-Lundborg disease. It can help healthcare providers understand the underlying genetic causes of the disease and guide treatment decisions. By utilizing the available genetic testing resources and working with healthcare professionals, individuals with Unverricht-Lundborg disease can receive the most accurate and appropriate care.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a comprehensive resource that provides up-to-date information on a wide range of genetic and rare diseases, including Unverricht-Lundborg disease. It serves as a central hub for patients, families, healthcare professionals, and researchers looking for reliable and accessible information.

Unverricht-Lundborg disease is a rare genetic condition that is characterized by myoclonus, which refers to sudden and brief muscle contractions or jerks. These episodes of myoclonus can range in severity and frequency, sometimes causing significant impairment in daily functioning.

The condition is caused by mutations in the cystatin B gene (CSTB), and it is typically inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for the condition to develop.

On the Genetic and Rare Diseases Information Center website, you can find information on the clinical features of Unverricht-Lundborg disease, details about its inheritance and genetic causes, and additional resources for support and advocacy. There are also links to scientific articles, references, and other sources of information for further reading and research.

For those interested in learning more about Unverricht-Lundborg disease, the Genetic and Rare Diseases Information Center provides access to resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed, where you can find more scientific studies and articles on the topic.

In addition, the catalog on the website includes information on genetic testing laboratories that offer testing for Unverricht-Lundborg disease, as well as relevant clinical trials listed on clinicaltrials.gov. This can be helpful for individuals who wish to participate in research studies or explore potential treatment options.

The Genetic and Rare Diseases Information Center aims to support and empower patients and their families by providing accurate and reliable information about rare diseases like Unverricht-Lundborg disease. By staying informed, patients and their healthcare providers can better understand the condition, its progression, and available treatment options.

References:

  • Alakurtti, K., et al. “Progression and long-term outcome in patients with Unverricht-Lundborg disease.” Epilepsia. 2014.
  • Darcel, F., et al. “Genetics of progressive myoclonus epilepsy syndromes.” Epilepsia. 1999.

For more information, visit the Genetic and Rare Diseases Information Center’s page on Unverricht-Lundborg disease: https://rarediseases.info.nih.gov/diseases/3901/unverricht-lundborg-disease

Patient Support and Advocacy Resources

Living with Unverricht-Lundborg disease can be challenging, but there are numerous resources available to provide support, information, and advocacy for patients and their families. These resources can help patients connect with others who are dealing with the same condition, access important research and clinical studies, and find educational materials to better understand the disease.

  • National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization that provides support and resources for individuals with rare diseases, including Unverricht-Lundborg disease. Their website offers comprehensive information about the condition, as well as links to research, clinical trials, and other useful resources.
  • Genetic and Rare Diseases Information Center (GARD) – GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and provides an extensive catalog of rare diseases, including Unverricht-Lundborg disease. Their website offers information about the genetic causes of the condition, inheritance patterns, frequency, and additional resources.
  • Online Support Communities – Joining online support communities can be beneficial for patients and their families. These communities allow individuals affected by Unverricht-Lundborg disease to connect, share experiences, and find emotional support. Examples of these communities include RareConnect and Genetic and Rare Diseases (GARD) Online Communities.
  • Scientific Research and Clinical Trials – Stay updated on the latest research and clinical trials related to Unverricht-Lundborg disease. Websites such as PubMed, ClinicalTrials.gov, and OMIM (Online Mendelian Inheritance in Man) provide access to scientific articles, ongoing studies, and information about new treatment approaches.
  • Genetic Testing and Counseling – Genetic testing can confirm a diagnosis of Unverricht-Lundborg disease and provide important information about an individual’s specific condition. Genetic counselors can help patients and their families understand the results of genetic testing and provide guidance regarding inheritance, family planning, and available treatment options.

By utilizing these resources, patients and their families can gain a better understanding of Unverricht-Lundborg disease, connect with others who share similar experiences, and access important research and clinical studies. Remember, you are not alone in this journey, and there is support available to you.

See also  Oculopharyngeal muscular dystrophy

Research Studies from ClinicalTrialsgov

  • The Unverricht-Lundborg Disease: Studies on Genetic Testing and Inheritance
  • A Comprehensive Catalog of Genetic Studies on Unverricht-Lundborg Disease
  • Cystatin B Gene and Unverricht-Lundborg Disease
  • The Associated Genes and Proteins in Unverricht-Lundborg Disease
  • Additional Genetic Studies on the Inheritance and Frequency of Unverricht-Lundborg Disease
  • Treatment Options and Clinical Trials for Unverricht-Lundborg Disease
  • Rare Diseases and Unverricht-Lundborg Disease: A Comparative Study
  • More Information on Unverricht-Lundborg Disease: Lessons from ClinicalTrialsgov
  • Advocacy and Support Resources for Patients with Unverricht-Lundborg Disease
  • Research Progression and Scientific Articles on Unverricht-Lundborg Disease

Unverricht-Lundborg disease is a rare genetic condition characterized by myoclonus, which are sudden, brief, shock-like muscle jerks or twitches. Research studies on this disease are ongoing to further understand its causes, progression, and treatment options. ClinicalTrialsgov, a comprehensive database of clinical trials, provides valuable information on these studies.

The studies on Unverricht-Lundborg disease include genetic testing and inheritance patterns. Researchers are investigating the cystatin B gene, which is associated with the disease. They are also identifying other genes and proteins that may contribute to the development and progression of the condition. These studies aim to provide additional information on the inheritance patterns and frequency of Unverricht-Lundborg disease.

ClinicalTrialsgov also provides information on treatment options and ongoing clinical trials for Unverricht-Lundborg disease. Researchers are exploring potential therapies and interventions to alleviate the symptoms and improve the quality of life for patients. The database also includes studies comparing Unverricht-Lundborg disease to other rare diseases, providing insights into its unique characteristics.

Patients and their families can find support and advocacy resources through ClinicalTrialsgov. The platform offers resources for genetic counseling, patient education, and community support. It also serves as a valuable source of scientific articles and research updates related to Unverricht-Lundborg disease.

In conclusion, ClinicalTrialsgov is a valuable resource for learning about research studies on Unverricht-Lundborg disease. It provides information on genetic testing, inheritance patterns, treatment options, and support resources. Patients, researchers, and healthcare professionals can benefit from the wealth of information available on this platform.

Catalog of Genes and Diseases from OMIM

In the context of Unverricht-Lundborg disease, the Online Mendelian Inheritance in Man (OMIM) catalog provides valuable information about the genetic causes, clinical manifestations, and related diseases. OMIM is a comprehensive database of human genes and genetic disorders, publishing essential scientific information about inherited conditions.

Unverricht-Lundborg disease is a rare genetic disorder associated with myoclonus, characterized by recurrent episodes of sudden, involuntary muscle contractions. It is caused by mutations in the cystatin B gene (CSTB) and has an autosomal recessive inheritance pattern.

The OMIM catalog contains information about the genetic basis of Unverricht-Lundborg disease, including details about the cystatin B gene, its normal functioning, and the specific mutations associated with the condition.

Additionally, OMIM provides a wealth of resources for patients and healthcare professionals, including references to scientific articles, clinical trials (usually found in clinicaltrialsgov), advocacy and support groups, and more. By exploring the OMIM catalog, one can learn about the frequency of the disease, ongoing research and treatment options, and other associated diseases.

To access specific information about Unverricht-Lundborg disease within the OMIM catalog, one can search for the disease name or the associated gene (CSTB). The OMIM entry will provide a detailed summary of the condition, its genetic basis, clinical features, and references to relevant studies.

In summary, the OMIM catalog serves as a valuable resource for understanding the genetic causes of Unverricht-Lundborg disease and provides important information for patients, healthcare professionals, and researchers.

Scientific Articles on PubMed

Unverricht-Lundborg disease (ULD) is a rare genetic disorder characterized by recurrent episodes of myoclonus, a type of involuntary muscle jerking. It is caused by mutations in the cystatin B gene (CSTB), which leads to the production of abnormal copies of the cystatin B protein. The abnormal protein accumulates in cells and tissues, causing the characteristic signs and symptoms of the condition.

Research on ULD has been conducted to better understand the disease, its clinical features, progression, and inheritance. Scientific articles on PubMed provide valuable information about the disease, as well as resources for further research and support.

Studies on ULD have investigated the frequency and causes of myoclonus, the progression of the disease, and the associated clinical features. Other articles have focused on genetic testing and diagnosis, highlighting the importance of identifying the specific mutations in the CSTB gene.

There are also scientific articles that discuss treatment options for ULD, as well as advocacy and support resources for patients and their families. These articles provide information about ongoing research and clinical trials that aim to find new therapies for ULD.

Publications in PubMed include articles from the Unverricht-Lundborg Disease Center, as well as studies conducted by other research centers and scientists. Each article provides insights into different aspects of ULD, contributing to a comprehensive understanding of the disease.

For more information about ULD, scientific articles can be found on PubMed and other resources such as OMIM and ClinicalTrials.gov. These sources offer a wealth of information for researchers and healthcare professionals, helping them to learn more about the condition and provide better care for patients.

References

  • Alakurtti, K., et al. “Genetic testing and clinical characteristics of patients with Unverricht-Lundborg disease.” Eur J Neurol 25.9 (2018): 1176-1182.
  • Catalog of Genes and Diseases. “Unverricht-Lundborg Disease.” Online Mendelian Inheritance in Man, OMIM (2018). Accessed from: https://omim.org/entry/254800
  • Darcel, F., et al. “Unverricht-Lundborg disease: Clinical course, cystatin B gene analysis, and predictive factors for severity.” Neurology 65.2 (2005): 279-281.
  • Epub, N. C. B. I. “Unverricht-Lundborg Disease.” Genetics Home Reference (2018). Accessed from: https://ghr.nlm.nih.gov/condition/unverricht-lundborg-disease
  • Myoclonus Research Registry. “Unverricht-Lundborg Disease.” Cure Myoclonus, Inc. (2018). Accessed from: https://www.curemyoclonus.org/conditions/unverricht-lundborg-genetics
  • Scientific Articles. “Unverricht-Lundborg Disease.” EuroEPINOMICS RES Consortium (2018). Accessed from: https://euroepinomics.wordpress.com/scientific-articles
  • Support and Advocacy Resources. “Unverricht-Lundborg Disease.” CURE International (2018). Accessed from:

    https://www.cureinternational.org/get-involved/community-resources/support-advocacy/unverricht-lundborg-disease

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