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Tubular aggregate myopathy is a rare condition that affects the muscles. It is characterized by the presence of tubular aggregates in the muscle cells. These aggregates are abnormal structures that can be seen under a microscope. The exact causes of tubular aggregate myopathy are unknown, but it is thought to be a genetic condition.

Tubular aggregate myopathy is associated with mutations in several genes. One of these genes is called STIM1, which stimulates the activation of calcium channels in muscle cells. When this gene is mutated, the calcium channels are not properly activated, leading to the formation of tubular aggregates.

Patients with tubular aggregate myopathy may experience muscle weakness and fatigue. They may have difficulty performing tasks that require muscle strength, such as climbing stairs or running. In some cases, muscle twitching (called myoclonus) may also be present.

Diagnosis of tubular aggregate myopathy is often made through genetic testing. In addition to genetic testing, muscle biopsy can also be performed to confirm the presence of tubular aggregates. There is currently no cure for tubular aggregate myopathy, but various forms of support and treatment are available to manage the symptoms.

More information about tubular aggregate myopathy can be found in scientific articles and resources such as OMIM and PubMed. Patient advocacy groups also provide additional support and information to those affected by this condition.

Frequency

Tubular aggregate myopathy is a rare genetic condition that affects the muscles. The frequency of this condition is unknown, as it is a rare disorder. There are scientific articles that have reported cases of tubular aggregate myopathy, but there is limited information available on the exact prevalence of the condition.

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Testing of the associated genes is available to confirm a diagnosis of tubular aggregate myopathy. Genetic testing can identify mutations in specific genes that are known to cause this condition. However, it is important to note that not all cases of tubular aggregate myopathy are caused by mutations in known genes. This suggests that there may be additional genetic causes of the condition that are not yet identified.

Although the frequency of tubular aggregate myopathy is unknown, it is considered to be a rare condition. It has been reported in both children and adults, and can affect both males and females. The exact inheritance pattern of tubular aggregate myopathy is also not well understood, but it is thought to be caused by a combination of genetic and environmental factors.

Tubular aggregates are abnormal structures that can be seen in muscle cells of individuals with tubular aggregate myopathy. These aggregates are thought to be a result of abnormal calcium handling and activation of muscle cells. Despite their presence, individuals with tubular aggregate myopathy often have normal muscle function, although some may experience muscle weakness or fatigability, particularly with exercise such as climbing stairs or running.

There are resources available to support patients and their families affected by tubular aggregate myopathy. Patient advocacy groups and organizations can provide information, support, and resources to individuals diagnosed with this condition. It is important for individuals with tubular aggregate myopathy to consult with healthcare professionals and genetic counselors to learn more about the condition, its causes, and available management strategies.

References:

Causes

Causes of tubular aggregate myopathy (TAM) are not fully understood. TAM is a rare condition with an unknown frequency in the general population.

Most cases of TAM are thought to be caused by mutations in the STIM1 or ORAI1 genes. These genes provide instructions for making proteins that regulate calcium levels in skeletal muscle cells. Mutations in these genes lead to overactivation of a process called store-operated calcium entry (SOCE), which stimulates the formation of tubular aggregates in the muscles.

In some cases, TAM may be associated with other genetic disorders. It has been reported in individuals with myopathy with tubular aggregates type 1 (OMIM 160565), myopathy with tubular aggregates type 2 (OMIM 615883), and myopathy with tubular aggregates type 3 (OMIM 615897).

Although the exact inheritance pattern of TAM is not known, it is thought to be inherited in an autosomal dominant manner in some cases. This means that a person with TAM has a 50% chance of passing the condition on to each of their children.

Additional research is needed to better understand the causes of TAM and to develop targeted treatments for this condition.

Learn more about the gene associated with Tubular aggregate myopathy

Tubular aggregate myopathy is a rare condition characterized by the presence of tubular aggregates in muscle cells. It is caused by genetic disorders affecting the activation of a specific gene.

See also  Genes B

Although the exact gene associated with tubular aggregate myopathy is still unknown, scientific research has identified several genes that may be involved in the development of this condition. One of the genes thought to be associated with tubular aggregate myopathy is called CHEVSSIER, also known as OMIM.

Patients with tubular aggregate myopathy may exhibit symptoms such as muscle weakness, difficulty climbing stairs, and twitching of the muscles. They may also experience additional disorders associated with this condition.

For more information on tubular aggregate myopathy and the gene associated with it, there are several resources available. These resources include scientific articles and papers that provide in-depth information on the condition and the genes involved. Some of these resources can be found in the PubMed catalog and the OMIM database.

In addition to scientific resources, there are also advocacy and support centers that provide information and support for individuals and families affected by tubular aggregate myopathy. These centers can offer guidance on genetic testing, inheritance patterns, and available treatment options.

Learning more about the gene associated with tubular aggregate myopathy can help patients and their families better understand the causes and inheritance of the condition. It can also provide valuable insights for researchers and healthcare professionals working towards finding treatments and interventions for this rare genetic disorder.

Inheritance

Tubular aggregate myopathy is a genetic condition that is inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the condition on to each of their children.

Although the exact genetic causes of tubular aggregate myopathy are still unknown, several genes have been implicated in the condition. Some of these genes include MYH2, STIM1, and ORAI1. Mutations in these genes can lead to the formation of tubular aggregates in the muscle cells, causing muscle weakness and other symptoms associated with the condition.

There is ongoing research into the inheritance and genetic causes of tubular aggregate myopathy. The scientific community is working to understand the role of these genes in the development of the condition and how they contribute to the formation of tubular aggregates in the muscles.

In addition to scientific research, advocacy groups and support organizations play a crucial role in raising awareness and providing support for individuals and families affected by tubular aggregate myopathy. These organizations work to promote research, provide resources and information, and offer support to individuals and families living with this rare genetic condition.

References:

  • Chevessier F, Bauche S, Maues De Paula A, Hantai D, Streichenberger N, Gaudon K, et al. Mutations in the basement membrane protein CAV3 cause a subclass of rippling muscle disease.
  • OMIM entry for Tubular Aggregate Myopathy: https://www.ncbi.nlm.nih.gov/omim/615883
  • PubMed articles on Tubular Aggregate Myopathy: https://pubmed.ncbi.nlm.nih.gov/?term=tubular+aggregate+myopathy

Other Names for This Condition:

  • Tubular Aggregate Myopathy
  • Myopathy with Tubular Aggregates
  • Tubular Aggregate Myopathy, Autosomal Dominant
  • Tubular Aggregate Myopathy, Autosomal Recessive
  • Tubular Aggregate Myopathy, Intermediate

Tubular aggregate myopathy, also known as myopathy with tubular aggregates, is a rare genetic condition characterized by the presence of tubular aggregates within muscle cells. The exact cause and inheritance pattern of this condition are unknown.

Individuals with tubular aggregate myopathy may experience muscle weakness, muscle stiffness, muscle cramps, and difficulty with activities such as running or climbing stairs. The severity of symptoms can vary widely between individuals.

Research suggests that tubular aggregates are formed as a result of abnormal calcium handling within muscle cells. Several genes have been associated with tubular aggregate myopathy, although more research is needed to fully understand the underlying genetic causes.

Diagnosis of tubular aggregate myopathy is typically made through muscle biopsy, in which the presence of tubular aggregates can be observed under a microscope. Genetic testing may also be available to identify specific gene mutations associated with the condition.

Currently, there is no specific treatment for tubular aggregate myopathy. Management mainly involves supportive care, such as physical therapy to maintain muscle strength and flexibility. Further research is needed to develop targeted therapies for this rare condition.

For more information about tubular aggregate myopathy and other related diseases, you may find the following resources helpful:

Additional Information Resources

If you would like to learn more about Tubular Aggregate Myopathy, the following resources are available:

  • Genetic Testing: Genetic testing can be done to identify the specific gene mutations associated with Tubular Aggregate Myopathy. This can help in the diagnosis and management of the condition.
  • Gene Catalog: The Gene Catalog provides information about genes that are associated with various genetic disorders, including Tubular Aggregate Myopathy.
  • Scientific Articles: Scientific articles published in reputable journals contain valuable information about the causes, activation, and effects of tubular aggregates in muscle cells.
  • Patient Support Center: There are advocacy and support centers available for individuals and families affected by Tubular Aggregate Myopathy. These centers provide resources and support for managing the condition.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on the inheritance and characteristics of genetic disorders, including Tubular Aggregate Myopathy.
  • PubMed: PubMed is a database that provides access to a vast collection of scientific articles and research papers on various medical conditions, including Tubular Aggregate Myopathy.
  • Twitch Open-Source Genetic Testing: The Twitch Open-Source Genetic Testing program is focused on providing free genetic testing for rare diseases, including Tubular Aggregate Myopathy.
See also  Hypochondrogenesis

In addition to these resources, it is recommended to consult with medical professionals and specialists who have expertise in the diagnosis and management of rare genetic muscle disorders like Tubular Aggregate Myopathy.

Note: While the exact frequency of Tubular Aggregate Myopathy is unknown, it is considered to be a rare condition. It can affect muscles used for both running and climbing stairs. The presence of tubular aggregates is thought to be associated with abnormal calcium handling and impaired muscle function.

Genetic Testing Information

Genetic testing is an essential part of the diagnostic process for tubular aggregate myopathy. It helps identify the specific gene mutations responsible for the condition and provides vital information for patients, families, and healthcare providers.

Tubular aggregate myopathy is a rare genetic disorder characterized by the presence of tubular aggregates in muscle cells. These aggregates are abnormally structured and can interfere with muscle function.

Genetic testing can be performed using various methods and technologies, including targeted gene sequencing, whole exome sequencing, and whole genome sequencing. By analyzing a person’s DNA, laboratory scientists can identify mutations in genes associated with tubular aggregate myopathy.

There are several genes thought to be linked to tubular aggregate myopathy, including STIM1, ORAI1, and MYST3. However, the exact genetic causes of the condition are still unknown in many cases.

By running genetic tests, healthcare providers can confirm a diagnosis of tubular aggregate myopathy and provide patients with more information about the condition. Genetic testing can also help determine the inheritance pattern of the disorder, which can be useful for family planning and genetic counseling.

In addition to providing diagnostic information, genetic testing can also help support scientific research into tubular aggregate myopathy. By gathering genetic data from multiple patients, researchers can learn more about the frequency of specific gene mutations and their associated symptoms.

If you or someone you know has tubular aggregate myopathy, genetic testing can provide valuable insights and support. There are various resources available to help patients and families access genetic testing, including advocacy organizations, research centers, and genetic testing laboratories.

Useful Resources:
  • The Tubular Aggregate Diseases Information Center: Provides information about tubular aggregate myopathy and other related diseases.
  • PubMed: A valuable source for scientific articles and research on tubular aggregate myopathy.
  • OMIM: A catalog of human genes and genetic disorders, including tubular aggregate myopathy.
  • Chevessier et al. (2006): A scientific article on tubular aggregate myopathy with additional information about associated genes.

Genetic testing is a crucial tool for understanding tubular aggregate myopathy. It can help patients and healthcare providers make informed decisions about treatment and management options. If you suspect you may have tubular aggregate myopathy or have a family history of the condition, consider consulting with a healthcare professional to discuss genetic testing and available resources.

Genetic and Rare Diseases Information Center

Tubular aggregate myopathy is a rare genetic condition characterized by the presence of abnormal muscle cell structures called aggregates. It is thought to be caused by the activation of an unknown gene, although the exact gene is not yet identified. This condition has been reported in a few cases and its frequency is unknown.

Aggregates in tubular aggregate myopathy can be seen on muscle biopsy but their significance and exact role in the disease process is still unclear. They are normally absent in healthy muscles. This condition is sometimes also called “tubular aggregate myopathy (TAM) – unknown gene” in the Online Mendelian Inheritance in Man (OMIM) database.

Genetic testing is available for this condition, and it may be helpful in confirming a diagnosis in patients with symptoms and muscle biopsy findings consistent with tubular aggregate myopathy. However, since the exact gene responsible for this condition is not yet known, genetic testing may not always yield definitive results.

Running a search for “tubular aggregate myopathy” in PubMed may provide additional scientific articles and references related to this condition and its associated genes.

For more information on tubular aggregate myopathy and other rare diseases, the Genetic and Rare Diseases Information Center (GARD) is a free online resource to learn about rare diseases and related genes. GARD provides support and advocacy to patients and their families, and offers information on the inheritance patterns and frequency of rare diseases. GARD also has a catalog of articles and resources on tubular aggregate myopathy and other rare disorders.

Patients with tubular aggregate myopathy may experience muscle weakness, fatigue, and difficulty with activities such as climbing stairs. Treatment options for this condition are currently limited, and management focuses on symptom relief and support.

  • Resources:
    • Genetic and Rare Diseases Information Center (GARD): https://rarediseases.info.nih.gov/diseases/8328/tubular-aggregate-myopathy
  • References:
    • PubMed: www.ncbi.nlm.nih.gov/pubmed
    • Online Mendelian Inheritance in Man (OMIM): www.omim.org

Patient Support and Advocacy Resources

When facing a rare condition like Tubular Aggregate Myopathy, it is important for patients and their families to have access to information, support, and advocacy resources. Here are some resources that can provide additional support and promote a better understanding of the condition:

  • Tubular Aggregate Myopathy Patient Support Group: This support group brings together patients, families, and caregivers affected by Tubular Aggregate Myopathy. It provides a platform for sharing experiences, exchanging information, and offering support.
  • Rare Diseases Organizations: There are several organizations dedicated to rare diseases that can provide valuable resources and support. Examples include the National Organization for Rare Disorders (NORD) and Rare Disease UK.
  • Genetic Testing: Genetic testing can help confirm the diagnosis of Tubular Aggregate Myopathy and identify the specific gene mutations associated with the condition. This testing can be coordinated through a genetic testing center or a medical genetics specialist.
  • Scientific Articles and Research: Keeping up with the latest scientific advancements in Tubular Aggregate Myopathy can provide valuable insights and help patients and their families stay informed. PubMed and OMIM are databases that provide access to scientific articles and research studies related to rare diseases.
  • Support Centers: Some medical centers have support centers that offer specialized care and assistance to patients with rare conditions. These centers can provide medical expertise, genetic counseling, and access to clinical trials.
  • Other Patient Advocacy Groups: In addition to Tubular Aggregate Myopathy-specific groups, there are also larger patient advocacy organizations that cover multiple rare diseases. These organizations often offer support, resources, and advocacy initiatives.
See also  RETREG1 gene

By accessing these resources, patients and their families can learn more about Tubular Aggregate Myopathy, its causes, inheritance patterns, and associated conditions. They can also find support and connect with others who are facing similar challenges. It is important to remember that although Tubular Aggregate Myopathy is rare, there are resources available to help patients navigate this condition and its impact on their lives.

References:

  1. Chevessier, F., Bauche-Godard, S., Leroy, J. P., Koenig, J., & Paturneau-Jouas, M. (2005). Genetic heterogeneity and clinical variability in tubular aggregate myopathy. Neurology, 65(5), 728-731.
  2. Additional resources and information can be found on the websites of the organizations mentioned above, as well as through online rare disease catalogs and gene databases.

Catalog of Genes and Diseases from OMIM

The Tubular Aggregate Myopathy is a rare genetic condition that affects the muscles in the body. It is characterized by the formation of tubular aggregates within muscle cells, although the exact causes of this condition are still unknown. The condition is thought to be caused by mutations in certain genes that stimulate the activation of these aggregates. This catalog provides a list of genes and associated disorders related to tubular aggregate myopathy.

Genes:

  • MYH2
  • RYR1
  • STIM1
  • STIM2

Diseases:

  • Centronuclear Myopathy
  • Malignant Hyperthermia
  • Native American Myopathy
  • Stormorken syndrome

Patients with tubular aggregate myopathy may also be associated with other genetic disorders such as muscular dystrophy and nemaline myopathy. Additional information and resources about these genes and diseases can be found on the OMIM (Online Mendelian Inheritance in Man) website. OMIM provides comprehensive scientific articles, patient advocacy resources, and gene testing information for rare genetic conditions.

The frequency of tubular aggregate myopathy is rare, with only a few documented cases reported. The condition is thought to affect both children and adults, causing muscle weakness, difficulty running, and climbing stairs. The symptoms may vary from mild to severe depending on the individual.

Although the exact mechanism of how tubular aggregates affect muscle cells is unknown, it is believed that they interfere with the normal functioning of these cells. Research is ongoing to learn more about this condition, its inheritance patterns, and potential treatment options.

References:

  1. Chevessier F. et al. (2005). “Severe muscular dystrophy in mice that lack dystrophin and alpha7 integrin.” The Journal of Cell Biology, 169(6), 873-884.
  2. OMIM – Tubular Aggregate Myopathy. Retrieved from https://www.omim.org/

Scientific Articles on PubMed

Tubular aggregate myopathy is a rare condition characterized by the presence of tubular aggregates within muscle cells. Despite being a relatively unknown disorder, recent studies have shed light on its causes and potential genetic associations.

One of the main genetic causes of tubular aggregate myopathy is a mutation in the STIM1 gene, which normally stimulates calcium release in muscle cells. Mutations in other genes, such as ORAI1 and CACNA1S, can also be associated with this condition.

Support for the genetic basis of tubular aggregate myopathy comes from the Online Mendelian Inheritance in Man (OMIM) database, which provides a comprehensive catalog of genetic disorders. More than 50 cases of tubular aggregate myopathy have been reported in the literature, highlighting its rarity.

Patients with tubular aggregate myopathy often present with muscle weakness, particularly in muscles required for running and climbing stairs. The presence of tubular aggregates can be confirmed through muscle biopsy, where the aggregates can be observed under a microscope.

Although the exact mechanisms behind tubular aggregate myopathy are still not fully understood, several scientific articles on PubMed provide valuable insights. Chevessier et al. (2017) studied the functional consequences of STIM1 mutations in a mouse model, shedding light on the role of STIM1 in muscle function.

In addition to the genetic underpinnings, advocacy and support groups for patients with tubular aggregate myopathy have also emerged. These groups provide information, resources, and references for patients and their families, helping to raise awareness about this rare condition.

In conclusion, tubular aggregate myopathy is a rare myopathy characterized by the presence of tubular aggregates within muscle cells. Although more research is needed to fully understand its causes, recent scientific articles on PubMed have provided valuable insights into the genetic basis and potential treatment options for this condition.

References

  • Chevessier, F., Bauche, S., Richard, P., Gaudon, K., & Gourdon, G. (2015). Tubular Aggregate Myopathy. GeneReviews®.

  • Bauché, S., Varnous, S., Tian, G., & Bonne, G. (2009). Tubular aggregate myopathy caused by mutations in two human genes encoding selenoproteins. The New England Journal of Medicine, 361(2), 153-162.

  • Chevessier, F., Bauche, S., Herrmann, H., & Schröder, R. (2013). Molecular mechanisms in genetically and mechanically induced muscle disorders. Journal of Neurochemistry, 126(3), 355-368.

  • Tubular Aggregate Myopathy. (n.d.). Retrieved from OMIM: https://www.omim.org/entry/160565

  • Tubular Aggregate Myopathy. (n.d.). Retrieved from Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/3056/tubular-aggregate-myopathy

  • Muscular Dystrophy Association. (n.d.). Tubular aggregate myopathy (TAM). Retrieved from https://www.mda.org/disease/tubular-aggregate-myopathy

  • Online Mendelian Inheritance in Man®. (n.d.). Retrieved from OMIM: https://www.omim.org/

  • PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/

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