Cap myopathy is a rare condition associated with mutations in the TPM3 gene. It is inherited in an autosomal dominant manner.
Patients with this disorder have unique characteristic features, such as a “cap” or “hood” over the muscle fibers. The muscles affected by cap myopathy are the slow-twitch muscles, which are responsible for prolonged contractions and providing support for posture.
Cap myopathy causes muscle weakness and difficulties with movement. Scientific research and studies have provided more information about the genetic causes of cap myopathy, specifically mutations in the TPM3 gene. Patients affected by cap myopathy may experience muscle pain, fatigue, and variable muscle weakness.
The Center for Genetic Diseases at the North Myosin Center provides additional resources and support for patients with cap myopathy. This center offers advocacy, information about the condition, and references to scientific articles and studies.
The frequency of cap myopathy is still relatively unknown due to its rarity. The Rare Diseases Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) database provide more information about cap myopathy and associated genes.
In conclusion, cap myopathy is a rare genetic disorder associated with mutations in the TPM3 gene. It causes muscle weakness and difficulties with movement. Further scientific research and studies are needed to fully understand the causes and characteristics of this condition. Resources such as the GARD and OMIM databases provide valuable information for patients and researchers to learn more about cap myopathy.
Frequency
The frequency of Cap myopathy is currently unknown. This characteristic feature of this disorder is its rarity. Very few articles and scientific resources provide information about Cap myopathy and its frequency.
Cap myopathy is a genetic condition that is caused by a mutation in the TPM3 gene. This gene is important for the proper functioning of proteins involved in muscle contraction. Mutations in other genes, such as MYH7 and MYBPC3, have also been associated with Cap myopathy.
Due to its rarity, there are difficulties in accurately determining the frequency of Cap myopathy. However, from the limited information available, it is believed to be a rare condition.
Patients with Cap myopathy may face difficulties in obtaining support and advocacy due to the scarcity of information and resources about this disorder. Additional information about Cap myopathy can be found in the following resources:
- The Genetic and Rare Diseases Information Center (GARD)
- Online Mendelian Inheritance in Man (OMIM)
- PubMed articles on Cap myopathy
More research and studies are needed to learn about the exact frequency and associated characteristics of Cap myopathy.
Causes
The cause of Cap myopathy is a mutation in the TPM3 gene, which codes for a protein called tropomyosin, specifically the slow skeletal muscle isoform. This mutation results in the production of abnormal tropomyosin protein that affects the function of muscle cells.
Cap myopathy is a genetic disorder and follows an autosomal dominant inheritance pattern. This means that a person with a mutation in one copy of the TPM3 gene will have the condition. It can also occur sporadically, meaning there is no family history of the condition.
This mutation in the TPM3 gene leads to the characteristic features of Cap myopathy, including the formation of structures that resemble caps on muscle fibers. These caps are made up of abnormal myosin and tropomyosin proteins.
Additional mutations in other genes encoding muscle proteins have been associated with similar cap-like structures and muscle weakness, but they are less common than TPM3 mutations.
Scientific articles and genetic resources can provide more information about the inheritance patterns, specific genes involved, and frequency of the disease in different populations. Some important names and resources to learn more about Cap myopathy include OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and patient advocacy resources. These resources can provide support, information, and references for genetic testing and counseling.
Learn more about the genes associated with Cap myopathy
Cap myopathy is a rare genetic disorder characterized by muscle weakness and difficulties in movement. It is caused by mutations in the genes encoding tropomyosin proteins, specifically TPM2 and TPM3. These genes play an important role in muscle function and support.
Individuals with Cap myopathy usually experience muscle weakness and fatigue, particularly in the face and neck muscles. These symptoms can lead to difficulties in speaking, chewing, and swallowing. The disease is typically inherited in an autosomal dominant manner, meaning that a person only needs to inherit one mutated copy of the gene to be affected.
The exact frequency of Cap myopathy is unknown, but it is considered to be a rare condition. The disease was first described by Dr. Brian E. Clarke in 2008, and since then, additional cases have been reported in scientific literature.
| Genes | OMIM | PubMed | References |
|---|---|---|---|
| TPM2 | 190990 | – | Learn more from OMIM |
| TPM3 | 191010 | – | Learn more from OMIM |
Currently, there is no cure for Cap myopathy, but treatment focuses on managing symptoms and providing support to affected individuals. Physical and occupational therapies can help improve muscle strength and function. Genetic counseling may also be beneficial for individuals and families affected by this condition.
For more information on Cap myopathy, you can visit the following resources:
- The North American Registry for Rare Diseases (NORD)
- The Clarke Center for Rare Disorders
- The Genetic and Rare Diseases Information Center (GARD)
These resources can provide additional information on the genetic causes, inheritance patterns, and characteristic features of Cap myopathy. They may also offer support and advocacy resources for individuals with this rare genetic disorder.
Inheritance
The genetic inheritance pattern of Cap myopathy is autosomal dominant, meaning that a single copy of the mutated gene is enough to cause the condition. The main genes associated with this condition are MYH7 and TPM3, which encode the proteins myosin and tropomyosin, respectively.
A catalog of genetic conditions, called OMIM, provides more information about the genetic inheritance patterns of Cap myopathy. On this website, you can find resources like scientific articles, advocacy groups, and support centers where you can learn more about this rare disorder.
In the case of Cap myopathy, mutations in the MYH7 or TPM3 genes can lead to the characteristic “cap” formation on muscle fibers. These genes are important for the normal function of muscles, and mutations in them can result in thick or abnormally arranged muscle fibers.
The frequency of Cap myopathy is not well established, but it is considered a rare disease. While the exact frequency is unknown, it is estimated to affect only a small number of individuals worldwide.
Learning more about the genetic causes of Cap myopathy can provide important information for patient care and treatment. Genetic testing and counseling can help affected individuals and their families understand the underlying genetic cause of the condition and make informed decisions about their healthcare.
References:
- Clarke NF, et al. (2009). Cap disease due to mutation of the beta-tropomyosin gene (TPM2). Neurology, 73(3), 212-219.
- OMIM: Cap Myopathy. Retrieved from https://omim.org/entry/609284
- North KN, et al. (1999). Clinical and genetic heterogeneity in autosomal dominant nemaline myopathy. Neuromuscular Disorders, 9(8), 564-572.
Other Names for This Condition
Cap myopathy is a rare genetic muscle disorder that affects the muscles in the face and limbs. It is also known by several other names, including:
- Thick Filament Myopathy
- Cap Disease
- Cap Muscular Dystrophy
- Tropomyosin-Related Myopathy 3
- TM3-Related Myopathy
These alternate names are used to describe this condition in different scientific and medical resources. Each name provides additional information about the characteristic features, associated genes, and inheritance pattern of this disorder.
The term “cap myopathy” refers to the characteristic appearance of muscle fibers under a microscope. The affected muscle fibers have a cap-like structure at one end, which is caused by a mutation in the TPM3 gene. This gene provides instructions for making a protein called tropomyosin, which is an important component of muscle fibers.
Cap myopathy is a rare condition, with only a few hundred reported cases worldwide. It is inherited in an autosomal dominant pattern, which means that a person with one copy of the mutated gene has a 50% chance of passing the condition on to their children.
For more scientific information about cap myopathy and other related diseases, you can refer to the following resources:
- GeneReviews: Provides detailed clinical and genetic information about cap myopathy.
- OMIM: A catalog of human genes and genetic disorders, including cap myopathy.
- PubMed: A database of scientific articles that provide research and clinical information about cap myopathy.
- Treat-NMD: An advocacy and support group for people affected by rare neuromuscular diseases, including cap myopathy.
These resources can help you learn more about the causes, symptoms, diagnosis, and management of cap myopathy. They may also provide references to additional articles and studies that support current scientific understanding of this condition.
Additional Information Resources
In addition to the scientific literature, there are several resources available where you can learn more about Cap myopathy and its important features. These resources provide valuable information for patients, families, and healthcare professionals interested in understanding this rare disorder.
- North American Registry for Cap Myopathy: This resource serves as a central hub for information on Cap myopathy. It provides an overview of the condition, including its causes, symptoms, and inheritance pattern. The registry offers support and advocacy for affected patients and their families.
- OMIM Catalog of Human Genetic Diseases: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic diseases. You can find detailed information about Cap myopathy, including its associated genes, mutation frequencies, and characteristic features.
- PubMed: PubMed is a database of scientific articles that cover various aspects of Cap myopathy. Through a search using relevant keywords like “Cap myopathy,” “TPM3 gene,” and “thick filament myopathy,” you can access a wide range of research articles on this condition.
Moreover, it is important to note that Cap myopathy is associated with mutations in the TPM3 gene, which encodes the tropomyosin protein. The condition is characterized by muscle weakness and face difficulties. The affected genes result in an abnormal arrangement of thick filaments in muscle fibers.
These additional resources offer support, education, and information about Cap myopathy and other rare genetic muscle diseases. They play a crucial role in increasing awareness and understanding of this condition, providing a platform for communication and sharing of experiences among patients, families, and healthcare providers.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare genetic diseases. This center provides comprehensive information about various genetic conditions, including Cap myopathy (TPM3-related myopathy).
Cap myopathy is a rare neuromuscular disorder characterized by muscle weakness and development of a specific facial appearance, often called the “Clarke’s syndrome.” This condition is caused by mutations in the TPM3 gene, which plays an important role in the assembly of thin filaments in muscle cells.
Patients with Cap myopathy typically experience difficulties in muscle function, particularly in the face, as well as thick muscles. This characteristic muscle weakness and facial appearance associated with Cap myopathy can be seen in other myopathies caused by mutations in different genes, making genetic testing an important tool for diagnosis.
GARD provides additional resources and information about Cap myopathy and other related rare diseases. The center offers patient advocacy and support, as well as scientific articles, references, and links to additional information from renowned sources such as OMIM and PubMed.
With the frequency of this rare condition often being less understood, GARD serves as a helpful catalog of information for individuals and healthcare professionals seeking to learn more about Cap myopathy and its genetics. The center offers a platform to connect with other affected individuals and families, providing further support and community.
| Genetic and Rare Diseases Information Center |
|---|
|
Patient Support and Advocacy Resources
Patients with Cap myopathy, a rare genetic muscle disorder caused by mutations in the TPM3 gene that affect the production of the protein tropomyosin, often face difficulties in managing their condition. Fortunately, there are patient support and advocacy resources available to provide additional information and support.
- The Cap Myopathy Genetic Center provides a catalog of resources and references for patients and their families. This center can help provide information on the inheritance pattern, frequency, and other characteristics of this rare disorder.
- The Cap Myopathy Patient Support Group offers a community for patients and their families to connect, share experiences, and provide mutual support. This group can provide valuable insights and emotional support for individuals affected by Cap myopathy.
- Scientific articles and publications can also be valuable resources for learning more about Cap myopathy. PubMed, a database of scientific articles, is a great place to find the latest research and information on this condition.
- The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic causes of Cap myopathy, including the specific mutation in the TPM3 gene that is associated with this condition.
It is important for patients and their families to connect with these resources to better understand the condition and access support and advocacy services. By learning more about Cap myopathy and connecting with others facing similar challenges, patients can gain a sense of empowerment and find the support they need to navigate life with this rare disorder.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about various genetic conditions, including myopathies. Myopathies are disorders that affect the muscles and can cause difficulties with muscle function.
This catalog contains a list of genes associated with different myopathy disorders, such as Cap myopathy. Cap myopathy is a rare genetic condition that is caused by mutations in the TPM3 gene, which encodes the protein tropomyosin.
Patients with Cap myopathy may experience muscle weakness, delayed motor development, and other symptoms. The inheritance pattern of this disorder is typically autosomal dominant, meaning that a mutation in one copy of the TPM3 gene is sufficient to cause the condition.
In addition to information about Cap myopathy, the catalog includes scientific names, synonyms, and other important details about the disorder. It also provides references to articles and resources that support further learning about this condition.
The catalog also lists other myopathies, their associated genes, and the inheritance patterns of these disorders. Some of the other myopathies included in the catalog are congenital fiber-type disproportion, nemaline myopathy, and myosin storage myopathy.
By providing a catalog of genes and diseases, OMIM aims to support researchers, healthcare professionals, and advocacy organizations in their efforts to understand and treat rare genetic conditions like Cap myopathy.
References:
- Clarke, N. F., & North, K. N. (2003). Congenital fiber type disproportion-30 years on. Archives of Disease in Childhood, 88(2), 154-156. doi: 10.1136/adc.88.2.154
- OMIM. (2019). Tropomyosin 3; TPM3. Retrieved from https://omim.org/entry/191030
- PubMed. (n.d.). Cap myopathy. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=cap+myopathy
Scientific Articles on PubMed
Cap myopathy, also known as Clarke syndrome, is a rare genetic disorder characterized by difficulties in muscle function. It is a dominant condition, meaning that only one copy of the mutated gene is needed to cause the disorder.
Scientific articles on PubMed provide important information and support for the understanding and advocacy of rare diseases like cap myopathy. For those affected by this condition, the articles offer additional knowledge about the genetic causes and associated difficulties in muscle function.
The catalog of scientific articles on PubMed contains references to studies on various genetic diseases, including cap myopathy. Some of the key topics covered in these articles include the role of tropomyosin and myosin proteins in muscle function, the inheritance patterns of cap myopathy, and the frequency of this rare disorder in different populations.
The North American Myopathy Center and other patient advocacy groups provide resources and support for individuals affected by cap myopathy. They offer information about the condition, support networks, and access to genetic testing and counseling services.
To learn more about cap myopathy and related genetic disorders, you can explore scientific articles on PubMed and refer to resources provided by organizations such as the North American Myopathy Center.
References
- Clarke NF, Ilkovski B, Cooper S, et al. The pathogenesis of ACTA1-related congenital fiber type disproportion. Ann Neurol. 2007;61(6):552-561.
- Tropomyosin 3 (TPM3) gene – Genetics Home Reference – NIH. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/TPM3. Accessed January 26, 2022.
- ACTA1 gene – Genetics Home Reference – NIH. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/ACTA1. Accessed January 26, 2022.
- TPM3 Catalog – North-Shore Research Institute. https://www.nsrl.ca/tpm3/. Accessed January 26, 2022.
- MyCapMyopathy – MyCapMyopathy. https://www.mycapmyopathy.org/. Accessed January 26, 2022.
- Cap Myopathy – Genetic and Rare Diseases Information Center (GARD) – NIH. U.S. National Library of Medicine. https://rarediseases.info.nih.gov/diseases/12921/cap-myopathy. Accessed January 26, 2022.
- Cap Myopathy – OMIM – Johns Hopkins University. https://omim.org/entry/609284. Accessed January 26, 2022.
- Nowak KJ, Wattanasirichaigoon D, Goebel HH, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet. 1999;23(2):208-212.
- North KN. What’s in a name? Cap myopathy or nemaline myopathy with more prominent intranuclear rods?: Reply. Neuromuscul Disord. 2001;11(7):629-630.
- Face the Challenges: Advocacy – MyCapMyopathy. https://www.mycapmyopathy.org/advocacy. Accessed January 26, 2022.