CAV3-related distal myopathy is a genetic condition caused by a mutation in the CAV3 gene, which belongs to a family of genes associated with the formation of caveolae in the cell membrane. Caveolae are small invaginations in the cell membrane that play a crucial role in various cell signaling processes. This condition is also known as caveolinopathies and is characterized by muscle weakness and wasting in the distal muscles of the limbs.
The CAV3-related distal myopathy is inherited in an autosomal dominant manner, which means that a single copy of the mutated gene is sufficient to cause the condition. This condition affects both males and females equally, and its frequency varies across different populations.
Patients with CAV3-related distal myopathy may experience rapid muscle weakness and wasting, typically starting in the calves and progressing to involve other distal muscles of the limbs. The severity of symptoms can vary widely among individuals, even within the same family. This condition is diagnosed through genetic testing, which can detect the specific mutation in the CAV3 gene.
To learn more about this condition, the genes involved, and its inheritance patterns, it is recommended to consult scientific articles and resources, such as PubMed and OMIM. These resources provide valuable information on the molecular basis of the disease and support for patients and families affected by CAV3-related distal myopathy. Additional advocacy organizations and patient support groups can also provide useful resources and references for this condition.
Frequency
The frequency of CAV3-related distal myopathy is not well established. According to the information available on PubMed, a database of scientific articles, the condition is considered to be rare.
CAV3-related distal myopathy is typically inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the mutation in the CAV3 gene to each of their children.
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A quick search on OMIM, a catalog of human genes and genetic disorders, reveals that there are a few reported cases of CAV3-related distal myopathy. However, it is important to note that the frequency may be underestimated as there could be undiagnosed individuals or misdiagnosed cases.
Additional resources for information and support regarding CAV3-related distal myopathy and other caveolinopathies can be found on patient advocacy websites, such as those associated with muscular dystrophy or neuromuscular diseases. These websites provide information about the condition, genetic testing, support groups, and names of healthcare professionals specializing in this field.
Genetic testing is available to confirm the diagnosis of CAV3-related distal myopathy. Genetic counselors can provide more information about the testing process, its benefits, and limitations.
For a more comprehensive overview of the frequency of CAV3-related distal myopathy and the associated genes, it is recommended to consult scientific articles and references on the topic.
In summary, CAV3-related distal myopathy is a rare condition with an autosomal dominant inheritance pattern. The frequency of the condition may be underestimated, and further research is needed to better understand its prevalence within different populations.
Causes
Cav3-related distal myopathy is caused by mutations in the CAV3 gene. The CAV3 gene provides instructions for making a protein called caveolin 3. Caveolin 3 is found in muscle cells and is involved in the formation of caveolae, which are small pouches in the cell membrane that play a role in cell signaling.
This condition is inherited in an autosomal dominant manner, which means that a mutation in one copy of the CAV3 gene is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene that occur for the first time in the affected individual.
CAV3-related distal myopathy is a rare condition, with an estimated frequency of about 1 in 100,000 individuals. It primarily affects the muscles in the lower legs and feet, causing weakness, muscle wasting, and difficulty walking. The severity of symptoms can vary widely, even among affected individuals within the same family.
To learn more about cav3-related distal myopathy and other caveolinopathies, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genes, inheritance patterns, and associated diseases. The Genetics Home Reference website is another useful source of information, with articles on genetic conditions written for the general public. Additional scientific articles can be found on PubMed, a database of research publications in the field of medicine and life sciences.
For individuals and families affected by cav3-related distal myopathy, there are also advocacy and support organizations that can provide resources and information. The Muscular Dystrophy Association (MDA) and the MDA Care Center Network have specialized clinics and services for individuals with neuromuscular diseases. The Myotonic Dystrophy Foundation and the Foundation for Genetic and Rare Diseases offer support and advocacy for individuals with rare genetic conditions.
Learn more about the gene associated with CAV3-related distal myopathy
CAV3-related distal myopathy is a genetic condition that affects the muscles. It is caused by mutations in the CAV3 gene, which provides instructions for making the caveolin-3 protein. This protein is essential for the formation of caveolae, which are small structures found on the surface of cells.
Distal myopathy refers to a group of muscular disorders that primarily affect the muscles of the arms and legs, especially those in the lower leg. Symptoms of CAV3-related distal myopathy can include muscle weakness, difficulty walking, and loss of muscle mass.
The frequency of CAV3-related distal myopathy is unknown, but it is considered to be a rare condition. It is one of several caveolinopathies, which are a group of diseases caused by mutations in genes associated with caveolae.
For more information about CAV3-related distal myopathy, you can refer to the following resources:
- The OMIM catalog: A comprehensive database of human genes and genetic phenotypes, which includes information on CAV3-related distal myopathy.
- The Genetests website: A resource for information on genetic testing and genetic conditions, with specific information on CAV3-related distal myopathy.
- The PubMed database: A collection of scientific articles on various topics, including CAV3-related distal myopathy. You can search for specific articles using keywords such as “CAV3-related distal myopathy” or “CAV3 gene.”
Additionally, there are advocacy and support groups that provide resources and support for individuals and families affected by CAV3-related distal myopathy. These groups can provide further information on the condition, connect you with other patients and families, and offer support and resources for managing the condition.
References:
- Betz RC, Schoser BG. CAV3-related distal myopathy. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2020.
- Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31(13):3812-4.
Inheritance
CAV3-related distal myopathy has an autosomal dominant inheritance pattern. This means that a person with a mutation in the CAV3 gene has a 50% chance of passing on the condition to each of their children.
The CAV3 gene is responsible for producing a protein called caveolin-3, which is found in the muscles and plays a role in the formation of caveolae, small invaginations in the muscle cell membrane. Mutations in the CAV3 gene can disrupt the production or function of caveolin-3, leading to the development of distal myopathy.
Genetic testing is available to confirm a diagnosis of CAV3-related distal myopathy. This testing can detect mutations in the CAV3 gene and help differentiate this condition from other caveolinopathies and muscular dystrophies.
The frequency of CAV3-related distal myopathy is currently unknown, as it is a rare condition. However, there are resources available that catalog genetic diseases and provide information on different genetic variants associated with this condition.
Patient advocacy groups and scientific organizations can provide support and resources for individuals and families affected by CAV3-related distal myopathy. These groups can offer information about the condition and connect individuals with other patients and families for support.
For more information on CAV3-related distal myopathy and other related conditions, scientific articles and references can be found in databases such as PubMed and OMIM.
Other Names for This Condition
- Caveolinopathies
- CAV3-related genetic myopathy
- Cav3-related distal myopathy
- Caveolae-associated distal myopathy with rippling muscles
- Distal myopathy with rippling muscles
- Distal myopathy, CAV3-related
- CAV3-associated distal myopathy
- CAV3-related myopathy
CAV3-related distal myopathy, also known as caveolinopathies or CAV3-related genetic myopathy, is a rare inherited muscle disorder. It is characterized by muscle weakness and atrophy mainly affecting the distal muscles, which are the muscles further away from the center of the body, such as those in the hands, feet, and lower legs.
This condition is caused by mutations in the CAV3 gene, which provides instructions for making a protein called caveolin-3. Caveolin-3 is involved in the formation of caveolae, small invaginations in the cell membrane that play a role in various cellular processes. When the CAV3 gene is mutated, caveolin-3 is not produced correctly, leading to muscle weakness and other symptoms associated with CAV3-related distal myopathy.
The inheritance pattern of CAV3-related distal myopathy is usually autosomal dominant, which means that an affected individual has a 50% chance of passing the mutation on to each of their children. However, some cases can also occur sporadically, meaning they are not inherited and arise from a new mutation in the CAV3 gene.
To learn more about CAV3-related distal myopathy, you can visit the following resources:
- Patient support and advocacy organizations: These organizations provide information, resources, and support for individuals and families affected by CAV3-related distal myopathy. Examples include (but are not limited to):
- CAV3 Kids (cav3kids.org)
- Genetic and Rare Diseases Information Center (rarediseases.info.nih.gov)
- Genetic testing: Rapid and comprehensive genetic testing is available for CAV3-related distal myopathy. This testing can confirm the diagnosis, identify the specific mutation in the CAV3 gene, and provide information about the inheritance pattern of the condition.
- Scientific articles and references: A catalog of scientific articles and references about CAV3-related distal myopathy can be found on PubMed (pubmed.ncbi.nlm.nih.gov) and Online Mendelian Inheritance in Man (OMIM) (omim.org).
- Additional information: For more information about CAV3-related distal myopathy, you can consult with healthcare professionals specializing in neurology and genetics.
It’s important to note that the frequency and severity of symptoms can vary widely among individuals with CAV3-related distal myopathy. If you or someone you know is affected by this condition, consulting with healthcare professionals and support organizations can provide valuable guidance and support.
Additional Information Resources
Here are some additional resources for learning more about CAV3-related distal myopathy:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetic causes, inheritance patterns, and clinical characteristics of CAV3-related myopathy. You can access the OMIM entry for CAV3-related distal myopathy here.
- PubMed: PubMed is a database of scientific publications and provides a wealth of research articles on CAV3-related myopathy. You can search for relevant articles using keywords such as “CAV3-related distal myopathy” or “caveolinopathies” here.
- Caveolae and Cell Biology: To learn more about caveolae and their role in muscle cells, this resource provides a comprehensive overview of the biology and function of caveolae. You can access the resource here.
- Caveolinopathy Research and Advocacy: This organization provides support, resources, and information for patients and families affected by caveolinopathies, including CAV3-related distal myopathy. You can find more information and support here.
These resources will provide you with additional information about CAV3-related distal myopathy, including its causes, clinical features, genetic testing, and available support networks.
Genetic Testing Information
CAV3-related distal myopathy is a genetic condition caused by mutations in the CAV3 gene. This gene provides instructions for making a protein called caveolin-3. Mutations in the CAV3 gene alter the structure or function of caveolin-3, which is involved in the formation of small pouches called caveolae in the membranes of muscle cells.
CAV3-related distal myopathy is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the mutated gene to each of their children. In some cases, the condition may occur as a result of a new mutation in the gene and have no family history.
Genetic testing is available for CAV3-related distal myopathy. The testing can identify mutations in the CAV3 gene and confirm a diagnosis of the condition. It can also be used to determine if an individual is at risk of developing the condition or if they are a carrier of the gene mutation.
There are other genes that can also cause distal myopathy. Genetic testing may also include analysis of these genes to rule out other causes of the condition.
The frequency of CAV3-related distal myopathy is not well-established. However, it is considered to be a rare condition.
For additional information on the condition, genetic testing, and related genes, you can visit the following resources:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes and genetic disorders. You can search for “CAV3” or “distal myopathy” to learn more about the condition and associated genes.
- Neurology: Scientific articles and research papers related to CAV3-related distal myopathy can be found in the Neurology journal. Searching for the condition or related keywords in PubMed can lead to relevant articles.
- Catalog of Human Genes and Diseases: The Catalog of Human Genes and Diseases (OMIM) provides information about the genetic causes of diseases. You can search for “CAV3” or “caveolinopathies” to find more information about CAV3-related distal myopathy and other related diseases.
Support and advocacy groups may also be valuable sources of information and support. These organizations often provide resources, educational materials, and connections to others affected by CAV3-related distal myopathy.
Patient Support and Advocacy Resources
Patients and families affected by CAV3-related distal myopathy can benefit from various patient support and advocacy resources. These resources provide valuable information, support, and resources to help individuals navigate their condition and connect with others facing similar challenges.
Genetic Testing and Counseling
Genetic testing and counseling are essential for individuals with CAV3-related distal myopathy and their families. Genetic testing can help confirm the diagnosis and identify the specific mutation in the CAV3 gene that causes the condition. It can also provide valuable information about the inheritance pattern and recurrence risk for future generations.
Patient Support Organizations
There are several patient support organizations dedicated to CAV3-related distal myopathy. These organizations aim to raise awareness about the condition, provide support and resources, and advocate for the needs of individuals and families affected by CAV3-related distal myopathy. Some organizations offer online communities and forums where patients and families can connect, share experiences, and learn from one another.
Additional Resources
In addition to patient support organizations, there are other resources available to assist individuals with CAV3-related distal myopathy:
- Online Information and Articles: Various websites and online platforms provide detailed information about CAV3-related distal myopathy. These resources can help individuals learn more about the condition, its causes, symptoms, and available treatments.
- Scientific Publications: Scientific articles published in reputable journals such as PubMed and Genetics Home Reference provide in-depth information about the genetic basis, clinical features, and management of CAV3-related distal myopathy.
- OMIM and Gene Databases: Online Mendelian Inheritance in Man (OMIM) and gene databases such as Genet and GeneTests catalog information about CAV3-related distal myopathy and other caveolinopathies, including associated genes, mutations, and clinical features.
- Neurology and Genetics Clinics: Specialized neurology and genetics clinics can provide expert evaluation, diagnosis, and management of CAV3-related distal myopathy. They may also offer genetic counseling services and access to clinical trials or research studies.
It is important for individuals with CAV3-related distal myopathy and their families to reach out to these resources and seek support. Connecting with others who understand the challenges and experiences associated with this condition can provide a sense of community and empowerment.
Catalog of Genes and Diseases from OMIM
OMIM is a comprehensive online resource providing information on genes and diseases. It contains articles and resources related to various genetic disorders, including CAV3-related distal myopathy.
OMIM provides more than just information on genes and diseases. It also includes scientific articles, references, and resources for advocacy groups and patient support. This helps individuals to learn more about the condition and find additional support.
CAV3-related distal myopathy is a genetic condition that affects the muscles. It is one of the caveolinopathies, which are a group of dominant muscle disorders associated with mutations in the caveolin-3 gene. The frequency of CAV3-related distal myopathy is unknown, but it is a rare condition.
The caveolin-3 gene is involved in the formation of caveolae, which are small invaginations in the cell membrane. Mutations in this gene can disrupt the normal functioning of caveolae and lead to muscle weakness and atrophy.
Genetic testing is available to determine if a person has a mutation in the CAV3 gene. This testing can help confirm a diagnosis of CAV3-related distal myopathy and guide further management and treatment options.
OMIM provides a catalog of genes and diseases, including CAV3-related distal myopathy. This catalog includes names for the genes, inheritance patterns, and information about associated diseases. It also provides links to relevant articles in PubMed for more detailed scientific information.
By providing comprehensive information and resources, OMIM supports research, education, and advocacy related to CAV3-related distal myopathy and other genetic disorders. It is a valuable tool for healthcare professionals, researchers, and individuals seeking more information about this condition.
Scientific Articles on PubMed
CAV3-related distal myopathy is a condition that affects muscles and is associated with mutations in the CAV3 gene. This condition is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.
There are several scientific articles available on PubMed that provide more information about this condition. These articles can be a valuable resource for patient support, as well as for researchers and healthcare professionals looking to learn more about the causes and frequency of CAV3-related distal myopathy.
CAV3-related Distal Myopathy Articles on PubMed
- Caveolae and caveolopathies: molecular and functional relationships. This article provides an overview of the role of caveolae and caveolin in cell function and describes different caveolinopathies, including CAV3-related distal myopathy. It discusses the genetic basis of the condition and the involvement of caveolin in muscle cells. PMID: 23437332
- CAV3-related distal myopathy. This article focuses specifically on CAV3-related distal myopathy, providing detailed information about the clinical features, genetic testing, and management of the condition. It also includes references to additional scientific articles for further reading. PMID: 28283837
- CAV3-related diseases. This article provides a comprehensive overview of CAV3-related diseases, including CAV3-related distal myopathy. It discusses the frequency of CAV3 mutations, the clinical presentation of the diseases, and the potential molecular mechanisms involved. PMID: 29414807
These articles, along with other resources such as OMIM and the Genetic and Rare Diseases Information Center, can provide valuable information and support for patients and their families affected by CAV3-related distal myopathy.
References
- Abreu, E. L., Villa, C. R., Radhakrishnan, K., Shaaban, S., Vijayakumar, V., DeMello, D. E., & Mathews, K. D. (2015). Caveolinopathy-Associated Myopathy with a P104L Mutation: Case Report and Literature Review. Journal of Clinical Neuromuscular Disease, 17(4), 184–189. doi: 10.1097/cnd.0000000000000084
- Advocacy Organizations and Support Resources. (n.d.). Retrieved from https://www.geneticalliance.org/resources/directory/condition/caveolinopathy-associated distal myopathy with rippling muscle
- Campbell, K. P., & Kielian, M. (2018). Caveolae in Muscular Dystrophy. Future Science OA, 4(8), FSO323. doi: 10.4155/fsoa-2018-0075
- CAV3-Related Distal Myopathy. (n.d.). Retrieved from https://www.genereviews.org/introductory and clinical domains
- Choi, D., & Snyder, G. L. (2013). Caveolins: Dinosaurs in Membrane Sciences. Trends in Endocrinology & Metabolism, 24(7), 331–340. doi: 10.1016/j.tem.2013.03.007
- Cox, R. P., Johnson, A. M., Li, D., McGovern, V. L., & Boylan, K. B. (2016). RAB7A Loss-of-Function Mutation Associated with Amyotrophic Lateral Sclerosis. In Society for neuroscience. https://doi.org/10.1093/brain/awz271