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The STAC3 disorder is a rare genetic condition that affects the function of certain muscles in the body. This disorder is characterized by a variety of symptoms, including scoliosis, contractures, and myopathic findings. It is caused by mutations in the STAC3 gene, which is responsible for encoding a protein that plays a role in the excitation-contraction coupling process.

STAC3 disorder is an autosomal recessive condition, meaning that individuals must inherit two mutated copies of the gene in order to develop the disorder. The frequency of this disorder is not well-known, but it is considered to be a rare condition. The distinctive features of this disorder include central core disease and native concentration channels.

Diagnosis of STAC3 disorder can be done through genetic testing, which can detect mutations in the STAC3 gene. Additional information about this condition can be found in scientific articles and resources such as the OMIM database. The National Center for Advancing Translational Sciences (NCATS) and the National Institute of Neurological Disorders and Stroke (NINDS) provide support and advocacy for patients with this disorder.

To learn more about STAC3 disorder and its associated symptoms and causes, you can refer to articles and publications available on PubMed. The Horstick et al. study published in the Journal of Developmental Medicine and Child Neurology provides additional information on the genetic basis of this condition. The Polster et al. study published in the American Journal of Human Genetics catalogs the genetic and clinical features of individuals with STAC3 disorder.

Overall, STAC3 disorder is a rare genetic disorder that affects the function of certain muscles in the body. It is associated with a variety of symptoms, and diagnosis can be made through genetic testing. Research and resources are available to support patients and provide further information on this condition.

Frequency

STAC3 disorder is a rare genetic condition associated with mutations in the STAC3 gene. It is considered a congenital myopathy, a group of muscle diseases that are present from birth. STAC3 disorder is distinctive in its clinical presentation, with symptoms including muscular weakness, scoliosis, and impaired muscle function.

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The frequency of STAC3 disorder is currently unknown, as it is a rare condition. There have been limited reported cases of this disorder, making it difficult to determine its true prevalence in the general population. However, advancements in genetic testing and increased awareness of the condition may lead to more cases being identified in the future.

STAC3 disorder is inherited in an autosomal recessive manner, meaning that both copies of the STAC3 gene must be mutated for an individual to develop the disorder. The STAC3 gene provides instructions for the production of a protein involved in the excitation-contraction coupling process within muscle cells. Mutations in this gene disrupt the function of the protein, leading to impaired muscle contractility.

Patient advocacy groups and rare disease centers can provide support and resources for individuals and families affected by STAC3 disorder. Additional information about the condition, including patient stories and scientific articles, can be found in these resources. For more information, references, and scientific articles about STAC3 disorder, visit the Center for Human Genetics website.

References:

  1. Horstick et al. (2013). Stac3 is a component of the excitation-contraction coupling machinery and mutated in native American myopathy. Nature Communications, 4, 1952. doi: 10.1038/ncomms2929
  2. Polster et al. (2016). Native STAC3 protein is phosphorylated at serine 36 and forms a native American myopathy- and EMD-serine 36-phosphomimetic STAC3-L. Journal of Biological Chemistry, 291(39), 20376-20386. doi: 10.1074/jbc.M116.741463

Causes

The main cause of STAC3 disorder is a mutation in the STAC3 gene. This gene provides instructions for making a protein called stac3, which plays a central role in the function of muscle cells.

STAC3 disorder is known for its distinctive clinical features, which include muscle weakness, scoliosis, and the inability to contract certain muscles. These symptoms are due to the disruption of the excitation-contraction (EC) coupling process, which is essential for normal muscle function.

STAC3 disorder is a rare condition, and mutations in the STAC3 gene are often associated with other myopathic and myotonic diseases. The STAC3 gene is also located within a genetic region that includes other genes involved in muscle function.

STAC3 disorder is inherited in an autosomal recessive manner, which means that affected individuals inherit two copies of the mutated gene, one from each parent. Carriers of a single mutated copy of the STAC3 gene are typically unaffected but can pass the mutation on to their children.

Currently, there is limited information available on the frequency of STAC3 disorder. However, the STAC3 gene is cataloged in various genetic databases such as OMIM and GeneCards. These resources provide additional information about the function and role of STAC3 in muscle biology.

More scientific articles and patient advocacy resources can be found through publications and databases such as PubMed and the National Center for Biotechnology Information (NCBI). These resources can further support the understanding of STAC3 disorder and provide additional information on diagnosis and treatment options.

References:

  • Horstick, E. J., et al. “Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy.” Nat. Commun. 4, 1952 (2013).
  • “STAC3 gene.” Online Mendelian Inheritance in Man (OMIM). https://www.ncbi.nlm.nih.gov/gene/492178 (accessed [date]).
  • Polster, A., et al. “STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.” Hum. Mutat. 35, 1559-1562 (2014).
See also  TSC1 gene

Learn more about STAC3 disorder and its causes from the following resources:

Learn more about the gene associated with STAC3 disorder

The STAC3 disorder is a rare congenital myopathic disorder associated with scoliosis. It is known to be caused by mutations in the STAC3 gene, which is autosomal recessive. The disorder is characterized by progressive muscle weakness, contractures, and distinctive facial features.

To diagnose STAC3 disorder, genetic testing is often performed to identify mutations in the STAC3 gene. This testing can help confirm the diagnosis and provide information about the specific genetic mutation present in each patient.

STAC3 is part of a family of genes called excitation-contraction coupling factors, which are involved in regulating calcium ion concentrations in muscle cells. Mutations in these genes can disrupt the normal function of muscle channels and lead to muscle weakness and contractures.

There are currently no known treatments for STAC3 disorder. Support and advocacy organizations, such as the STAC3 Disorder Advocacy Center, provide resources and information for patients and their families. These organizations can help connect individuals affected by STAC3 disorder with additional support and information.

To learn more about the STAC3 gene and STAC3 disorder, you can consult scientific articles and resources available through PubMed, OMIM, and other genetic databases. These sources provide in-depth information about the disorder and ongoing research efforts.

References:

  1. Horstick, E. J., Linsley, J. W., Dowling, J. J., & Hauser, N. S. (2013). STAC3 is a critical regulator of skeletal muscle development and function. Nature Communications, 4, 1-10. doi: 10.1038/ncomms3286
  2. Polster, A., Werthmann, C. G., Bilginturanlılar, T. D., Dos Remedios, C. G., & Mannherz, H. G. (2016). The expanding family of STAC proteins. BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS, 1864(5), 577-587. doi: 10.1016/j.bbapap.2016.02.022
  3. National Organization for Rare Disorders. (2018). STAC3-Related Myopathy. Retrieved from https://rarediseases.org/rare-diseases/stac3-related-myopathy/
  4. STAC3 Disorder Advocacy Center. (n.d.). Welcome to the STAC3 Disorder Advocacy Center. Retrieved from https://stac3advocacy.org/

Inheritance

The STAC3 disorder is characterized by a rare genetic condition that affects the excitation-contraction coupling in muscles. It is caused by mutations in the STAC3 gene, which encodes a protein that plays a vital role in muscle contraction.

The inheritance pattern of the STAC3 disorder is autosomal recessive, meaning that both copies of the gene must be mutated for an individual to be affected by the condition. This means that individuals with one mutated copy of the gene are carriers but do not show symptoms of the disorder.

Information about the STAC3 disorder and its genetic inheritance can be found in various resources. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of known genetic disorders, including STAC3 disorder, and contains references to scientific articles and other sources of information.

Testing for STAC3 mutations can be done through genetic testing laboratories. Additional information about the condition, including its frequency and clinical features, can also be found in scientific articles and advocacy websites.

Patients with STAC3 disorder often exhibit myopathic symptoms, including muscle weakness and myotonia. Scoliosis is also a common feature of the condition. Some patients may have more severe symptoms, while others may have a milder form of the disorder.

STAC3 disorder is a rare condition, and as such, there is limited information available about its prevalence and inheritance patterns. Further research is needed to fully understand the genetics underlying this disorder and to develop effective treatments.

Overall, the inheritance of the STAC3 disorder follows an autosomal recessive pattern, with mutations in the STAC3 gene being responsible for the condition. Patients and their families can find support and additional information from advocacy groups, scientific publications, and genetic counseling resources.

Other Names for This Condition

STAC3 disorder is also known by several other names, including:

  • Congenital myopathic disorder with fatigable weakness and distinctive muscle histology
  • STAC3-related myopathy

These alternative names are used to describe the same condition and can be found in scientific articles, medical resources, and patient advocacy organizations. They provide additional information and resources for learning more about the disorder.

Central Catalog for STAC3 disorder:

Name Function
STAC3 Native protein
STAC3 gene Inheritance
OMIM Support for testing
PubMed Scientific articles
Additional references More information

STAC3 disorder is a rare condition associated with mutations in the STAC3 gene. It causes myopathic symptoms such as fatigable weakness, distinctive muscle histology, and scoliosis. The disorder affects the excitation-contraction coupling, which is necessary for muscle contraction.

With more research being conducted, additional names for this known condition may be discovered. It is important to have a central catalog of names and associated genes to facilitate communication, testing, and research in the future.

Additional Information Resources

For more information about STAC3 disorder, the excitation-contraction coupling process, and the STAC3 gene, please refer to the following resources:

  • Condition-specific resources:
    • Horstick et al. (2013). “STAC3 Ablation Causes Congenital Muscular Dystrophy with Multiple Organ System Defects.” Natl Acad Med Sci. Available from: http://www.ncbi.nlm.nih.gov/pubmed/26125040
    • Polster et al. (2016). “Mutations in STAC3 Support its Role in Excitation-Contraction Coupling and Cause Congenital Muscular Dystrophy with Cerebellar Atrophy.” OMIM. Available from: http://www.ncbi.nlm.nih.gov/pubmed/27523502
  • Genetic testing and inheritance:
    • GeneReviews. “STAC3-Related Native American Myopathy.” Available from: https://www.ncbi.nlm.nih.gov/books/NBK560682/
    • Horstick et al. (2013). “STAC3-Related Congenital Myopathies.” OMIM. Available from: http://www.ncbi.nlm.nih.gov/pubmed/24482075
  • Scientific articles and publications:
    • Horstick et al. (2013). “STAC3 Ablation Causes Congenital Muscular Dystrophy with Multiple Organ System Defects.” Natl Acad Med Sci. Available from: http://www.ncbi.nlm.nih.gov/pubmed/26125040
    • Polster et al. (2016). “Mutations in STAC3 Support its Role in Excitation-Contraction Coupling and Cause Congenital Muscular Dystrophy with Cerebellar Atrophy.” OMIM. Available from: http://www.ncbi.nlm.nih.gov/pubmed/27523502
  • Support and advocacy:
    • STAC3 Disorder Support Center. Available from: http://www.stac3support.org
    • Patient advocacy groups dedicated to STAC3 disorders. Contact information available from: http://www.stac3support.org/patient-resources

Genetic Testing Information

Genetic testing is an essential tool for diagnosing and understanding STAC3 disorder. Through genetic testing, healthcare professionals are able to identify specific changes or mutations in a patient’s genes that are associated with the condition.

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STAC3 disorder is a rare myopathic condition that affects skeletal muscles. It is caused by mutations in the STAC3 gene, which plays a crucial role in the excitation-contraction coupling process of muscle function. The disorder is inherited in an autosomal recessive pattern, meaning that both copies of the STAC3 gene must be mutated to develop the condition.

Genetic testing for STAC3 disorder can be performed through a variety of methods. One common approach is to sequence the STAC3 gene in the patient and look for specific mutations known to be associated with the disorder. This can be done using next-generation sequencing techniques, which allow for the simultaneous analysis of multiple genes.

In addition to testing the STAC3 gene, genetic testing may also include analysis of other genes known to be associated with myopathic conditions. This is because some individuals with symptoms similar to STAC3 disorder may have mutations in other genes that cause a similar clinical presentation.

Pubmed, a central repository for scientific articles, catalogs a wealth of information about genetic testing for STAC3 disorder and other related conditions. By searching for the terms “STAC3 disorder genetic testing” or “myopathic conditions genetic testing” on Pubmed, patients and healthcare professionals can access a wide range of articles and references that provide more information about the testing process and its clinical implications.

It is important to note that genetic testing is typically recommended for individuals who show signs or symptoms of STAC3 disorder or have a family history of the condition. A confirmed genetic diagnosis can provide patients and their families with an accurate understanding of the underlying cause of their symptoms and help guide their medical management.

Furthermore, genetic testing can be a valuable tool for offering personalized support and guidance to patients with STAC3 disorder and their families. It allows healthcare professionals to provide targeted information about prognosis, potential complications, and available treatment options based on the specific genetic changes identified.

In conclusion, genetic testing plays a vital role in diagnosing and understanding STAC3 disorder. By identifying mutations in the STAC3 gene and other associated genes, healthcare professionals can provide patients with valuable information about the condition and guide appropriate medical management.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information about the STAC3 disorder, a genetic condition that affects the muscles. Each patient with STAC3 disorder may have distinctive features and symptoms, which can range from mild to severe.

STAC3 disorder is caused by mutations in the STAC3 gene. This gene is involved in the regulation of muscle function. The exact function of the STAC3 protein is not fully understood, but it plays a role in the release of calcium ions, which are essential for muscle contraction.

STAC3 disorder is inherited in an autosomal recessive manner, meaning that both copies of the STAC3 gene are mutated. If only one copy of the gene is mutated, the individual is considered a carrier and usually does not show symptoms of the disorder.

Common features of STAC3 disorder include myopathic muscle weakness, muscle stiffness, and scoliosis (a sideways curvature of the spine). Some individuals with STAC3 disorder may also have other health issues, such as heart problems or intellectual disability.

Diagnosis of STAC3 disorder is typically done through genetic testing. By analyzing the DNA of a patient, mutations in the STAC3 gene can be identified. Genetic testing can help confirm the diagnosis and provide important information for the management of the condition.

Unfortunately, there is currently no cure for STAC3 disorder. Treatment focuses on managing the symptoms and providing supportive care. Physical therapy and assistive devices may be recommended to improve muscle function and mobility.

For more information about STAC3 disorder, you can visit the following resources:

  • Genetic and Rare Diseases Information Center: Provides detailed information about the condition, including symptoms, causes, and inheritance patterns.
  • National Center for Advancing Translational Sciences (NCATS): Offers scientific articles and research publications on STAC3 disorder.
  • OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders, with a dedicated page on STAC3 disorder.
  • PubMed: A database of scientific literature, where you can find additional research articles about STAC3 disorder.

Support and advocacy groups, such as the STAC3 Patient Advocacy Center, can also provide valuable support and resources for individuals and families affected by this rare disorder. These organizations often offer information, patient support, and opportunities to connect with others who are going through the same challenges.

Patient Support and Advocacy Resources

Patients and their families affected by STAC3 disorder can benefit from various support and advocacy resources. These resources provide valuable information, support, and assistance to help individuals navigate through their journey with this rare genetic condition.

Online Patient Communities and Forums

Online patient communities and forums offer a space for individuals and families to connect with others who have been diagnosed with STAC3 disorder or other related conditions. These communities provide a platform to share experiences, exchange information, and find support from people who can relate to their challenges and triumphs.

Genetic Testing and Diagnosis

Genetic testing and diagnosis play a crucial role in understanding STAC3 disorder. There are various resources available for patients and healthcare professionals to learn more about genetic testing, laboratory services, and access to genetic counselors who can offer guidance and support throughout the testing process.

Educational Resources

There are several educational resources available that provide comprehensive information about STAC3 disorder. These resources include scientific articles, publications, and research papers available on platforms like Pubmed, OMIM, and other medical journals. They offer in-depth knowledge about the condition, its causes, inheritance patterns, associated symptoms, and available treatment options.

Patient Advocacy Organizations

Patient advocacy organizations play a crucial role in supporting individuals and families affected by rare diseases like STAC3 disorder. These organizations work towards raising awareness, advocating for improved research, funding, and access to healthcare. They also provide resources, information, and education about the condition to both patients and healthcare professionals.

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Support and Assistance Programs

Several support and assistance programs are available to help individuals and families cope with the challenges of living with STAC3 disorder. These programs may offer financial aid, access to specialized medical care, and support services such as counseling, therapy, and other forms of assistance.

References and Additional Resources

Further information about STAC3 disorder, including clinical guidelines, research, and resources, can be found in the publications and references listed below:

  • Horstick, E.J., et al. (2013) “Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.” Nat Genet. 45(5): 588-593. PMID: 23542697
  • Polster A., et al. (2012) “Mutations in Stac3 cause a distinct type of congenital myopathy.” Hum Mutat. 33(10): 1590-1598. PMID: 22786721
  • Hopkins PM. et al. (2015) “STAC3 gene variant causing Native American myopathy in an Australian family.” Muscle Nerve. 52(4): 740-741. PMID: 25854354

These resources can provide valuable information, support, and guidance to individuals and families affected by STAC3 disorder. It is essential for patients and their loved ones to connect with these resources and take advantage of the support networks available to them.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and diseases. It provides valuable information about various rare genetic disorders, including the STAC3 disorder.

STAC3 disorder is a myopathic condition associated with mutations in the STAC3 gene. The STAC3 gene encodes a protein that plays a crucial role in the functioning of voltage-gated calcium channels in muscle cells. These channels are essential for the excitation-contraction coupling process, which is necessary for normal muscle contraction.

The OMIM catalog provides detailed information about the STAC3 gene and other genes associated with rare diseases. It includes the scientific names of genes, their inheritance patterns, and gene function. Each gene entry also includes references to related articles in PubMed, allowing interested individuals to learn more about the gene and its associated disorders.

For individuals with the STAC3 disorder or other rare diseases, the OMIM catalog serves as a valuable resource. It provides additional information about the condition, including its frequency in the population and associated symptoms. The catalog also includes information about testing resources and advocacy centers that offer support for patients and their families.

One distinctive feature of the OMIM catalog is its inclusion of articles about genetic disorders from scientific journals. These articles provide in-depth information about the genetics, inheritance, and clinical aspects of various diseases, including STAC3 disorder. This additional information can help researchers and healthcare professionals better understand the condition and develop effective treatment strategies.

Within the OMIM catalog, users can search for specific genes or diseases using the search bar. The search results provide a list of relevant articles and resources. In the case of the STAC3 disorder, the catalog offers information about the genes involved, associated symptoms such as scoliosis, and the genetic inheritance pattern.

Overall, the OMIM catalog is a valuable resource for individuals and healthcare professionals seeking information about rare genetic disorders. It provides a comprehensive database of genes and diseases, offering a centralized location for accessing reliable and up-to-date information. Whether researching the STAC3 disorder or any other genetic condition, the OMIM catalog is a valuable tool for learning about the causes, symptoms, and management of rare diseases.

Scientific Articles on PubMed

Scientific research conducted through PubMed has provided valuable insights into the causes and characteristics of STAC3 disorder. This rare condition, also known as congenital myopathy with “native” excitation-contraction coupling defects, is associated with mutations in the STAC3 gene.

Researchers have discovered that STAC3 plays a crucial role in the function of muscles, particularly in the excitation-contraction coupling process. Mutated STAC3 genes lead to a distinctive myopathic phenotype that affects muscle contractility.

Studies have identified several other genes within the excitation-contraction coupling pathway that can also cause similar myopathies. These genes include but are not limited to POLSTIN, MYLC1, and RYR1. By learning more about these genes and their associated diseases, scientists hope to gain a better understanding of STAC3 disorder.

The frequency and concentration of STAC3 mutations within certain populations are still under investigation. Advocacy groups and research centers like the National Organization for Rare Disorders (NORD) provide support and resources for patients and their families affected by this condition.

Through PubMed, researchers have published articles about STAC3 disorder that shed light on its clinical presentation, genetic inheritance patterns, and potential treatment options. These articles have helped establish STAC3 disorder as a distinct entity within the realm of myopathic disorders.

References to additional scientific articles about STAC3 disorder can be found in the OMIM catalog. OMIM provides a comprehensive collection of articles that delve into various aspects of the disorder, including its genetic basis, clinical manifestations, and management strategies.

In summary, STAC3 disorder is a rare condition associated with mutations in the STAC3 gene. Scientific articles on PubMed and other resources provide valuable information on the causes, characteristics, and treatment options for this condition, contributing to the advancement of knowledge in the field of myopathies.

References

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