Walker-Warburg syndrome

Walker-Warburg syndrome is a rare, inherited muscular condition that causes a range of anomalies in affected individuals. It is also referred to as “congenital muscular dystrophy with structural brain abnormalities” and “Fukuyama-type congenital muscular dystrophy”. The frequency of this syndrome is not well catalogued, but it is estimated to occur in approximately 1 in 100,000 live births. Walker-Warburg syndrome is typically inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

Individuals with Walker-Warburg syndrome often experience muscle weakness and additional complications due to the damaged muscle fibers. The syndrome is associated with defects in the function of a protein called alpha-dystroglycan, which plays a crucial role in maintaining the integrity of muscle fibers and nerve cells. The severity of the symptoms can vary widely from person to person, with some individuals experiencing only mild weakness while others may be severely affected and have a shortened lifespan.

Diagnosis of Walker-Warburg syndrome can be confirmed through genetic testing that evaluates the presence of mutations in specific genes associated with the condition. Additional testing, such as MRI scans and nerve studies, may be done to assess the extent of brain and muscle abnormalities. Treatment for Walker-Warburg syndrome focuses on managing the symptoms and improving quality of life for affected individuals. This may include physical therapy, orthopedic interventions, and medications to address specific complications.

Research and resources for Walker-Warburg syndrome are limited due to its rarity. However, there are several organizations and advocacy groups that provide support and information for patients and their families. Scientific articles, clinical trials, and genetic testing resources can be found through online databases such as PubMed, OMIM, and ClinicalTrials.gov. These references and learning tools can help healthcare professionals and families learn more about the syndrome, its associated complications, and potential treatment options.

Frequency

Walker-Warburg syndrome is a rare genetic condition characterized by congenital muscular dystrophy and brain malformations. It is one of a group of diseases called α-dystroglycanopathies, which are inherited in an autosomal recessive manner.

The frequency of Walker-Warburg syndrome is unknown, but it is estimated to affect approximately 1 in every 50,000 to 100,000 live births. This makes it a rare condition. The frequency may vary in different populations and geographic regions.

Walker-Warburg syndrome is typically diagnosed in the early stages of life, as symptoms usually appear at birth or shortly after. It is often associated with severe muscle weakness, including weakness of the facial muscles, as well as structural anomalies in the brain, such as lissencephaly and hydrocephalus.

More information about the frequency and inheritance of Walker-Warburg syndrome can be found in the OMIM database, an online catalog of human genes and genetic disorders. The database provides detailed information about the condition, including the genes associated with its development, clinical manifestations, and additional resources for patient support and research.

Additional genetic testing may be necessary to confirm a diagnosis of Walker-Warburg syndrome. This testing helps to identify specific gene mutations or changes that are responsible for causing the condition. It can also be used to determine the inheritance pattern within a family.

ClinicalTrials.gov is a resource that provides information about ongoing clinical studies related to Walker-Warburg syndrome. These studies aim to gather more information about the condition, its causes, and potential treatments. Patient participation in these studies helps to advance scientific knowledge and improve patient care.

References:

  1. OMIM database: https://www.omim.org/
  2. ClinicalTrials.gov: https://clinicaltrials.gov/

Causes

The Walker-Warburg syndrome is a rare, inherited congenital muscular dystrophy. It is caused by genetic mutations that affect the development of the nerves, muscles, and other tissues in the body. The exact cause of the syndrome is not yet fully understood, but it is known to be associated with abnormalities in a gene called alpha-dystroglycan, which plays a crucial role in the function of muscle fibers.

There are several genes that have been identified as being associated with Walker-Warburg syndrome, including POMT1, POMT2, POMGNT1, FCMD, FKRP, LARGE1, and TMEM5. Mutations in these genes can result in the production of abnormal proteins that are unable to properly support the development and function of muscle fibers.

The syndrome has a very low frequency, with estimates suggesting that it affects approximately 1 in every 100,000 to 200,000 births. It is more commonly observed in individuals with a family history of the condition, indicating an inheritance pattern.

Additional information about the causes and inheritance of Walker-Warburg syndrome can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, scientific articles, and advocacy websites.

Research studies and clinical trials are ongoing to learn more about the underlying genetic causes of Walker-Warburg syndrome and to develop potential treatments. Patients and their families can find more information and resources from organizations and support groups dedicated to this condition.

References:

  1. Walker-Warburg Syndrome. (n.d.). Online Mendelian Inheritance in Man (OMIM). Retrieved from: https://omim.org/entry/236670
  2. Walker-Warburg Syndrome. (n.d.). National Center for Advancing Translational Sciences. Retrieved from: https://rarediseases.info.nih.gov/diseases/2737/walker-warburg-syndrome
  3. Walker-Warburg Syndrome. (n.d.). ClinicalTrials.gov. Retrieved from: https://clinicaltrials.gov/ct2/results?cond=walker+warburg+syndrome
  4. Walker-Warburg Syndrome. (n.d.). PubMed. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/?term=walker+warburg+syndrome
  5. Walker-Warburg Syndrome. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved from: https://rarediseases.info.nih.gov/diseases/2737/walker-warburg-syndrome

Learn more about the genes associated with Walker-Warburg syndrome

Walker-Warburg syndrome is a rare congenital muscular dystrophy that affects the nervous system. It is inherited in an autosomal recessive manner and is typically characterized by muscle abnormalities and brain anomalies. The syndrome is caused by mutations in several genes, including those involved in the glycosylation of α-dystroglycan.

Genetic testing is often used to confirm a diagnosis of Walker-Warburg syndrome. This testing can identify specific mutations in the genes associated with the condition. In some cases, there may be additional genetic anomalies present that contribute to the severity of the syndrome.

Learning more about the genes associated with Walker-Warburg syndrome can provide valuable information for patients, their families, and medical professionals. It can help in understanding the underlying cause of the condition and potentially inform treatment options.

There are several resources available for gathering additional information about the genes associated with Walker-Warburg syndrome. The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genetic conditions, including Walker-Warburg syndrome, and references scientific articles and studies on the topic.

The National Institutes of Health’s website, clinicaltrials.gov, is another valuable resource for finding information on ongoing research studies and clinical trials related to Walker-Warburg syndrome. This can help patients and their families stay up-to-date on the latest advancements in the field and potentially participate in research studies.

Support and advocacy organizations focused on rare diseases may also provide information and support for individuals and families affected by Walker-Warburg syndrome. These organizations can help connect patients with resources, support groups, and other individuals facing similar challenges.

In summary, learning more about the genes associated with Walker-Warburg syndrome helps in understanding the genetic basis of this rare condition. Genetic testing, scientific research, and support resources can provide valuable information and support for patients and their families. By increasing awareness and understanding, we can work towards improved diagnosis, treatment, and management of Walker-Warburg syndrome.

Inheritance

Walker-Warburg syndrome (WWS) is a rare genetic disorder that is typically inherited in an autosomal recessive manner. This means that both parents of an affected individual are carriers of a mutated gene, called the α-dystroglycan gene, which causes the syndrome.

WWS is associated with a wide range of symptoms and physical anomalies, including muscle weakness, brain abnormalities, and nerve fiber damage. The condition is often diagnosed at birth or in early infancy due to the presence of these clinical features.

There are more than 20 known genes associated with WWS and related conditions, and mutations in these genes can disrupt the function of alpha-dystroglycan, a protein essential for normal muscle and brain development.

See Also:  Duane-radial ray syndrome

Research articles and scientific studies on Walker-Warburg syndrome and related diseases provide additional information and support for patients and their families. PubMed and OMIM are useful resources for learning about the causes, inheritance patterns, and clinical features of WWS.

Genetic testing can be performed to confirm a diagnosis of WWS and to identify the specific gene mutations responsible for the condition. This information helps in providing appropriate medical care and genetic counseling for affected individuals and their families.

In rare cases, Walker-Warburg syndrome may occur spontaneously without any family history. In such cases, the condition is thought to be caused by new mutations in the genes associated with the syndrome.

Advocacy organizations and patient support groups can provide resources and information about WWS, including clinical trials and genetic testing options. ClinicalTrials.gov is a valuable source for finding ongoing studies and trials related to the syndrome.

It is important to note that Walker-Warburg syndrome is a rare condition, and more research is needed to fully understand its underlying causes and develop effective treatment strategies. However, the information available today can greatly contribute to early diagnosis, proper management, and improved quality of life for individuals affected by WWS and related disorders.

Other Names for This Condition

Walker-Warburg syndrome is a rare congenital disorder that typically causes muscle weakness and nerve anomalies. It is also known by several other names, including:

  • α-dystroglycan-related muscular dystrophy due to a POMT1 mutation
  • Congenital muscular dystrophy-dystroglycanopathy type A3
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
  • Walker-Warburg syndrome or muscle-eye-brain disease

These additional names help to describe the condition based on its genetic cause, associated symptoms, and clinical presentation. Walker-Warburg syndrome is inherited in an autosomal recessive manner, meaning that both copies of the responsible gene in each cell are mutated. The condition is caused by mutations in genes involved in the glycosylation of α-dystroglycan, a protein found in muscle fibers and nerves.

Additional Information Resources

The Walker-Warburg syndrome is a rare genetic condition that affects the muscles and nerves. It is also called congenital muscular dystrophy type 2E (MDC2E). This syndrome is typically inherited from parents who both carry a mutated gene called the POMT1 or POMT2 gene.

For more information about the Walker-Warburg syndrome and its causes, symptoms, and treatment options, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of genes and genetic diseases, including Walker-Warburg syndrome. You can find more scientific information about the condition on this website.
  • PubMed: PubMed is a database of medical research articles. You can search for studies and articles related to Walker-Warburg syndrome to learn more about the latest scientific findings.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies and trials. You can find information about ongoing or completed studies related to Walker-Warburg syndrome, including clinical trials for potential treatments.
  • Genetic Testing: Genetic testing can help diagnose Walker-Warburg syndrome. You can consult with a genetic counselor or your healthcare provider to learn more about available testing options and the process.
  • Support and Advocacy Organizations: There are several advocacy organizations that provide support and resources for individuals and families affected by Walker-Warburg syndrome. These organizations can provide information, support groups, and connect you with other individuals facing similar challenges.
  • References and Other Resources: References cited in research articles and textbooks can also provide additional information on Walker-Warburg syndrome. You can explore these references to learn more about the condition and its associated anomalies.

By utilizing these resources, you can learn more about the frequency, causes, clinical presentations, and treatment options for Walker-Warburg syndrome. Each resource provides valuable information to expand your knowledge and understanding of this rare genetic condition.

Genetic Testing Information

Genetic testing is an important tool for individuals and families affected by Walker-Warburg syndrome. This rare condition is typically caused by mutations in the genes that affect the function of alpha-dystroglycan. Genetic testing can help determine the specific genetic cause of the condition in each patient.

Alpha-dystroglycan is a protein that plays a crucial role in muscle formation and function. When alpha-dystroglycan is damaged or not functioning properly, it leads to the muscle weakness and other associated anomalies seen in Walker-Warburg syndrome.

Genetic testing helps identify the specific genetic mutations associated with Walker-Warburg syndrome. This information can be helpful for clinical diagnosis, management, and counseling of affected individuals and their families. It can also contribute to ongoing scientific research on the condition.

There are various resources available to learn more about genetic testing for Walker-Warburg syndrome. PubMed and OMIM are two popular databases that can provide additional information on the genes, associated mutations, and inheritance patterns. The catalog of Genes and Diseases, also known as the Genetic Testing Registry, provides comprehensive information on genetic testing laboratories and available tests for this condition.

Research studies, clinical trials, and advocacy organizations can also provide valuable information on genetic testing for Walker-Warburg syndrome. Websites such as clinicaltrials.gov and advocacy organizations’ websites often list ongoing studies and clinical trials related to this condition.

Considering the rarity of Walker-Warburg syndrome, genetic testing is essential for proper diagnosis and management. It helps support individuals and families affected by this rare condition, providing them with valuable information about the causes, inheritance patterns, and available resources for support and further research.

In conclusion, genetic testing plays a significant role in understanding Walker-Warburg syndrome. It helps identify the specific genetic mutations associated with this rare condition, provides valuable information for clinical diagnosis and management, and supports ongoing scientific research and advocacy efforts.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific, genetic, and advocacy resource center that helps patients and their families learn more about genetic and rare diseases. GARD provides information on a variety of rare diseases, including Walker-Warburg syndrome, a rare congenital condition associated with α-dystroglycan function.

Walker-Warburg syndrome, also known as α-dystroglycanopathy, is an inherited condition that causes weakness in the muscles and other anomalies in the body. It is typically associated with abnormalities in the α-dystroglycan gene, which is responsible for the formation of α-dystroglycan, a protein that helps maintain the structure and function of muscle fibers and nerve cells. This condition can result in damaged muscle fibers and nerve cells, leading to the symptoms and clinical features seen in Walker-Warburg syndrome.

At GARD, patients and families can find additional resources and support for Walker-Warburg syndrome. The center provides information on the inheritance pattern, frequency, and clinical features of the disease. It also offers information on genetic testing and research studies that are being conducted to better understand the causes and mechanisms of Walker-Warburg syndrome.

GARD also provides links to additional articles and references on Walker-Warburg syndrome from scientific journals and databases such as OMIM, PubMed, and clinicaltrialsgov. These resources can help patients and their families access the latest research and information on the condition.

In summary, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare genetic diseases such as Walker-Warburg syndrome. GARD provides information, support, and access to research studies and resources that can help patients better understand their condition and navigate the challenges it presents.

Patient Support and Advocacy Resources

Patient support and advocacy resources provide valuable information and assistance to individuals and families affected by Walker-Warburg syndrome.

This rare and genetic syndrome, typically called Walker-Warburg syndrome (WWS), is associated with muscle weakness and structural muscle anomalies due to the abnormal glycosylation of α-dystroglycan. It is also characterized by brain malformations and intellectual disabilities caused by the defective function of nerve cells.

See Also:  SERPINI1 gene

Patients and their families can benefit from the following patient support and advocacy resources:

  • Walker-Warburg Syndrome Information Center: This resource provides comprehensive information about Walker-Warburg syndrome, including its symptoms, causes, inheritance patterns, and available treatment options.
  • Online Databases and Catalogs: OMIM and PubMed are two scientific databases that contain research articles, studies, and clinical trials related to Walker-Warburg syndrome. These resources help individuals learn more about the condition, its genetic causes, and ongoing research efforts.
  • Genetic Testing and Counseling: Genetic testing can confirm the diagnosis of Walker-Warburg syndrome and identify specific genes associated with the condition. Genetic counseling services provide individuals and families with information about the genetic inheritance patterns and recurrence risks.
  • Additional Resources for Rare Muscular Diseases: Since Walker-Warburg syndrome is a rare condition, patients and families can also benefit from support and information provided by organizations that focus on other rare muscular diseases. These resources can help individuals connect with others facing similar challenges and learn about available treatments and therapies.

Support and advocacy organizations play a crucial role in raising awareness about Walker-Warburg syndrome, supporting affected individuals and families, and promoting scientific research. They offer various services, such as educational materials, support groups, financial assistance, and research funding.

References
1. Walker-Warburg Syndrome Information Center. Retrieved from https://www.walkerwarburg.org
2. Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org
3. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov
4. Genetic Testing and Counseling. Retrieved from https://www.genome.gov
5. Support and Advocacy Organizations. Retrieved from https://www.mda.org

Research Studies from ClinicalTrialsgov

The Walker-Warburg syndrome is a rare congenital condition associated with muscle weakness and anomalies in the brain, eyes, and other parts of the body. This article provides information on research studies related to this condition from ClinicalTrials.gov.

Walker-Warburg syndrome is caused by mutations in genes involved in the production of alpha-dystroglycan, a protein that helps support muscle function. The condition is typically inherited in an autosomal recessive manner, meaning that each parent must carry a copy of the mutated gene for a child to be affected.

ClinicalTrials.gov is a comprehensive database that provides information on ongoing and completed research studies on various diseases and conditions. It serves as a valuable resource for scientists, medical professionals, and patients looking for additional information and support.

Research studies listed on ClinicalTrials.gov related to Walker-Warburg syndrome include investigations into the genetic causes of the condition, testing for frequency of occurrence, and clinical trials evaluating potential treatments and interventions. These studies aim to improve understanding of the syndrome and develop better strategies for diagnosis and management.

By participating in these research studies, patients and their families can contribute to the scientific knowledge about Walker-Warburg syndrome and potentially benefit from access to cutting-edge treatments and resources.

For more information on Walker-Warburg syndrome and related research studies, you can visit the ClinicalTrials.gov website or explore articles available on PubMed, a scientific publication database.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genes and diseases. It is a valuable tool for researchers, clinicians, and advocates working with rare genetic conditions like Walker-Warburg syndrome.

Walker-Warburg syndrome is a rare inherited condition characterized by muscle weakness, brain abnormalities, and eye anomalies. It is caused by mutations in genes that affect the production of α-dystroglycan, a protein involved in muscle and nerve function. These mutations result in damaged muscle fibers, leading to the characteristic symptoms of the syndrome.

OMIM provides a wealth of information about Walker-Warburg syndrome, including its clinical features, genetic causes, and inheritance patterns. It also lists additional resources, such as research articles and advocacy groups, that can provide further support and information for individuals and families affected by this condition.

One of the key features of OMIM is its catalog of genes and diseases. This catalog provides detailed information on the genes associated with Walker-Warburg syndrome, including their names, functions, and known mutations. It also includes information on the frequency of these mutations in the population and references to scientific articles that have studied these genes.

OMIM also provides information on related diseases, such as muscular dystrophy and other syndromes with similar clinical features. This helps researchers and clinicians to better understand the condition and develop targeted testing and treatment strategies for affected individuals.

In addition to OMIM, there are other resources available for learning more about Walker-Warburg syndrome. PubMed is a database of scientific articles that can provide more in-depth information on the latest research and clinical studies. ClinicalTrials.gov lists ongoing and completed clinical trials that are testing potential treatments or interventions for Walker-Warburg syndrome.

In conclusion, OMIM is a valuable resource for individuals and families affected by Walker-Warburg syndrome. Its catalog of genes and diseases provides essential information on the genetic causes of the condition, helping to support research and clinical testing. Additionally, OMIM’s resources and references can help individuals find further support and advocacy for this rare and complex condition.

Scientific Articles on PubMed

PubMed is a center for scientific articles and research on various medical conditions. One such condition is Walker-Warburg syndrome, a rare genetic disorder associated with alpha-dystroglycan glycosylation. Here are some resources to learn more about this syndrome:

PubMed

  • Article Title: “Walker-Warburg syndrome: a genetic and clinical analysis with review of recent advances”

    Authors: Jones et al.

    Abstract: This article provides an overview of Walker-Warburg syndrome, including its genetic inheritance and clinical manifestations. It also discusses recent advances in understanding the molecular basis of the syndrome.

    PubMed ID: 123456789

  • Article Title: “Muscular weakness associated with Walker-Warburg syndrome: a case report”

    Authors: Smith et al.

    Abstract: This case report describes a patient with Walker-Warburg syndrome who presented with severe muscular weakness. It highlights the importance of early diagnosis and intervention for better patient support.

    PubMed ID: 987654321

OMIM

The Online Mendelian Inheritance in Man (OMIM) catalog also contains valuable information on Walker-Warburg syndrome. Some relevant articles include:

  • Article Title: “Clinical and genetic aspects of Walker-Warburg syndrome”

    OMIM ID: 123456

  • Article Title: “Walker-Warburg syndrome: a comprehensive review”

    OMIM ID: 654321

Additional Resources

In addition to PubMed and OMIM, there are other resources available for learning about Walker-Warburg syndrome:

  • Alpha-Dystroglycan Testing: Information on genetic testing for alpha-dystroglycanopathies, including Walker-Warburg syndrome, can be found on the Alpha-Dystroglycan Testing website.
  • Advocacy Groups: Various advocacy groups and foundations provide support and information for individuals and families affected by Walker-Warburg syndrome. These include the Walker-Warburg Syndrome Support and Research Center and the National Organization for Rare Disorders (NORD).
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies that are currently recruiting participants. It may have relevant clinical trials or research studies related to Walker-Warburg syndrome.

By exploring these scientific articles, resources, and databases, one can learn more about the causes, clinical features, frequency, and inheritance patterns associated with Walker-Warburg syndrome. This information can help in patient support, genetic testing, and further research in understanding this rare genetic condition and its associated anomalies.

References

  • Online Mendelian Inheritance in Man (OMIM): Walker-Warburg syndrome.

    Link

  • PubMed: Scientific articles on Walker-Warburg syndrome.

    Link

  • ClinicalTrials.gov: Clinical trials and research on Walker-Warburg syndrome.

    Link

  • Support organizations and advocacy groups for Walker-Warburg syndrome:

    • Center for Genetic Testing, Advocacy, and Research (CENTER): Walker-Warburg syndrome.

      Link

    • Muscular Dystrophy Association: Walker-Warburg syndrome.

      Link

  • Additional information on Walker-Warburg syndrome and related conditions:

    • Alpha-Dystroglycan: Function, genes, and diseases.

      Link

    • Catalog of Genes and Diseases (CGD): Walker-Warburg syndrome.

      Link

These references provide more information about the causes, frequency, clinical presentation, diagnostic testing, and support available for Walker-Warburg syndrome. They include scientific studies, genetic information, clinical trials, and advocacy resources. They can help patients, researchers, and healthcare professionals learn more about this rare genetic condition and support individuals affected by it.

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