Myosin storage myopathy – Austra Health

Myosin storage myopathy (MSM) is a rare genetic condition that affects the muscles. It is characterized by the abnormal accumulation of myosin, a protein involved in muscle contraction, within muscle fibers. This condition can cause muscle weakness, stiffness, and difficulty with movement.

Research on myosin storage myopathy is still limited due to its rarity, but a growing number of studies are shedding light on this condition. PubMed, a scientific research database, provides numerous articles about MSM, including information on its frequency, associated genes, and clinical presentations.

There are several genes that have been found to be associated with myosin storage myopathy, such as MYH7, MYBPC1, and MYBPC3. Additional research is ongoing to identify other genes involved in this condition.

For patients and healthcare providers seeking more information on myosin storage myopathy, resources like the Online Mendelian Inheritance in Man (OMIM) database, the Center for Research on Myosin Storage Myopathies, and advocacy organizations can provide support and up-to-date information on research, clinical trials, and genetic testing.

In summary, myosin storage myopathy is a rare genetic condition characterized by the accumulation of myosin in muscle fibers. Although our understanding of this condition is still evolving, ongoing research and the availability of resources provide hope for improved diagnosis, management, and treatment options for patients affected by myosin storage myopathy.

Frequency:

Myosin storage myopathy (MSM) is a rare genetic disorder. It was first described by Tajsharghi et al. in 2010. The exact frequency of MSM is currently unknown, but it is considered a rare disease.

MSM has an autosomal dominant inheritance pattern, which means that an affected individual has a 50% chance of passing the condition on to their offspring.

Genetic testing is available for MSM. This can be done through specialized laboratories or research centers. PubMed and OMIM are valuable resources to learn more about the genetic causes and associated genes of myosin storage myopathy.

Research studies on myosin storage myopathy are limited and there is a lack of patient information available. However, there are some case reports and studies published in scientific journals that provide additional information on the condition.

ClinicalTrials.gov is a valuable resource to find ongoing clinical trials and research studies related to myosin storage myopathy. It can provide information on new treatments and potential therapies for the condition.

Advocacy groups and support networks can also provide valuable information and support for individuals and families affected by myosin storage myopathy. These organizations can help connect patients with rare disease resources and provide support for managing the condition.

From the available literature, it appears that myosin storage myopathy is a rare condition with limited research studies and patient information. Further studies and research are needed to better understand the frequency, causes, and associated genes of this condition.

Causes

The exact cause of myosin storage myopathy is still not fully understood. It is a rare genetic condition that has been associated with mutations in the MYH7 and MYH3 genes. MYH7 gene mutations are the most common genetic cause of myosin storage myopathy. MYH3 gene mutations are less common but have also been found in some patients with this condition.

The MYH7 gene provides instructions for making a protein called beta-myosin heavy chain, which is found in muscle cells. Mutations in this gene result in the production of an abnormal beta-myosin protein, leading to the buildup of abnormal myosin complexes within the muscle fibers. This buildup interferes with normal muscle function and causes the characteristic symptoms of myosin storage myopathy.

The MYH3 gene provides instructions for making a protein called embryonic myosin heavy chain, which is also found in muscle cells. Mutations in this gene can lead to the production of an abnormal embryonic myosin protein. The exact role of MYH3 gene mutations in myosin storage myopathy is still not fully understood, but studies have suggested that they may contribute to the development of the condition in some individuals.

Myosin storage myopathy is an autosomal dominant condition, which means that one copy of the mutated gene in each cell is sufficient to cause the disorder. In some cases, the disorder may also occur sporadically, without any family history of the condition. In such cases, the mutation occurs for the first time in the affected individual and is not inherited from a parent.

Additional research is still needed to fully understand the genetic and molecular mechanisms underlying myosin storage myopathy. Clinical trials and genetic testing are currently being conducted to learn more about the causes and inheritance patterns of this condition.

For more information about the genetic causes of myosin storage myopathy, please refer to the following resources:

OMIM Gene – MYH7
OMIM Gene – MYH3
Tajsharghi H, Oldfors A. Myosin storage myopathy. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2001-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK550605/
Myosin Storage Myopathy Information Page. National Institute of Neurological Disorders and Stroke. Available from: https://www.ninds.nih.gov/Disorders/All-Disorders/Myosin-Storage-Myopathy-Information-Page
Myosin Storage Myopathy. Muscular Dystrophy Association. Available from: https://www.mda.org/disease/myosin-storage-myopathy

Learn more about the gene associated with Myosin storage myopathy

Myosin storage myopathy is a rare genetic condition that affects the muscles. Research studies have identified a specific gene associated with this condition. The gene, known as MYH7, encodes the myosin heavy chain protein that is important for muscle contraction.

To learn more about the MYH7 gene and its association with myosin storage myopathy, you can refer to various genetic databases and scientific resources. Here are some recommended sources:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genetic disorders and associated genes. You can search for Myosin storage myopathy and MYH7 to find relevant information.
PubMed: PubMed is a vast collection of scientific articles. Searching for “Myosin storage myopathy MYH7” on PubMed can provide you with research studies and articles on the genetic causes of this condition.
ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials. Although there might not be specific trials for Myosin storage myopathy, you can find studies related to the condition that might mention the MYH7 gene.

For patient support and advocacy, you can also explore additional resources such as patient organizations and support groups dedicated to rare muscle diseases. They might have more information about the genetic causes of Myosin storage myopathy and the MYH7 gene.

Remember, consulting with a healthcare professional or a genetic testing center is crucial for accurate diagnosis and understanding of the genetic inheritance patterns associated with Myosin storage myopathy.

Inheritance

The inheritance pattern of myosin storage myopathy (MSM) is genetic, which means that it is passed down from parents to their children. MSM can be inherited in an autosomal dominant or autosomal recessive manner.

For patients with MSM, the frequency of inheriting the condition depends on the specific genetic mutation involved. Autosomal dominant inheritance means that an affected individual has a 50% chance of passing the condition on to each of their children, regardless of gender. Autosomal recessive inheritance means that both parents must carry a copy of the mutated gene in order for their child to be affected.

Testing for myosin storage myopathy can provide a definitive diagnosis and help determine the inheritance pattern of the condition. Genetic testing can identify mutations in the myosin genes associated with MSM. This testing can be done through specialized laboratories and genetic centers. Public resources like PubMed and OMIM can provide additional scientific information about the genetic causes and inheritance patterns of myosin storage myopathy.

References:

Tajsharghi H, Oldfors A. Myosin storage myopathy. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2003–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK478541/
National Center for Advancing Translational Sciences (NCATS). Myosin storage myopathy. Genetics and Rare Diseases Information Center (GARD) [Internet]. Bethesda (MD): NCATS; 2020. Available from: https://rarediseases.info.nih.gov/diseases/9976/myosin-storage-myopathy
PubMed [Internet]. Bethesda (MD): National Library of Medicine (US). Myosin storage myopathy; [cited 2021 May 6]; [about 7 screens]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=myosin+storage+myopathy
ClinicalTrials.gov [Internet]. Bethesda (MD): National Library of Medicine (US). 2021 Apr 12 – . Identifier NCT05009602, A Natural History Study of Myosin Storage Myopathy (MSM); 2021 Apr 12 [about 3 screens]. Available from: https://clinicaltrials.gov/ct2/show/NCT05009602

Other Names for This Condition

Myosin storage myopathy is also known by the following names:

Thick filament myopathy
Tajsharghi-Oldfors syndrome
Myosin myopathy
Myopathy, myosin storage

This condition is a rare genetic myopathy that is associated with mutations in the MYH7 gene, which encodes the myosin protein. It is characterized by storage of abnormal myosin protein in muscle cells, leading to muscle weakness and other clinical symptoms. The frequency of this condition is currently unknown.

Additional information about myosin storage myopathy can be found on the websites of various advocacy and support organizations, such as the Myosin Storage Myopathy Center and the Tajsharghi-Oldfors Myopathy Center. These organizations provide resources for patients and families affected by this condition, including information about genetic testing, clinical trials, and research studies.

Scientific articles and research studies about myosin storage myopathy can be found in the PubMed database. References to these articles can be found on the OMIM Catalog of Genetic Diseases and the ClinicalTrials.gov database.

Additional Information Resources

Here are some additional resources that can provide support and more information about myosin storage myopathy:

Genetic Testing: Genetic testing can help diagnose myosin storage myopathy and identify the specific genetic changes associated with the condition.
Scientific Catalog: The scientific catalog contains references to studies and articles about myosin storage myopathy and related diseases.
OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information about the genetic causes and inheritance of myosin storage myopathy and other genetic disorders.
PubMed: PubMed is a database of scientific articles and publications where you can find research studies and clinical trial information related to myosin storage myopathy.
Tajsharghi Lab: The Tajsharghi Lab website offers information about myosin storage myopathy and their ongoing research in this field.

These resources can help you learn more about myosin storage myopathy, find support, and access valuable information about the condition.

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding rare conditions such as Myosin Storage Myopathy. This condition is associated with mutations in the MYH7 gene, which codes for the myosin protein in muscles.

Genetic testing can confirm a diagnosis of Myosin Storage Myopathy by identifying mutations in the MYH7 gene. It can also help determine the inheritance pattern and provide information about the specific genetic cause of the condition.

For patients with Myosin Storage Myopathy, additional genetic testing may also be recommended to look for mutations in other genes associated with similar muscle diseases. This can help provide a more accurate diagnosis and guide appropriate treatment options.

Genetic testing for Myosin Storage Myopathy can be performed at specialized genetic testing centers. These centers have expertise in testing for rare genetic conditions and can provide counseling and support for patients and their families.

There are also several online resources available for learning more about genetic testing and Myosin Storage Myopathy. The National Center for Biotechnology Information’s PubMed database provides access to scientific articles and research studies on the topic. The Online Mendelian Inheritance in Man (OMIM) database provides information about the genetic causes and inheritance patterns of various diseases, including Myosin Storage Myopathy.

In addition to PubMed and OMIM, there are advocacy organizations and patient support groups that can provide further information and support for individuals with Myosin Storage Myopathy and their families. ClinicalTrials.gov is another resource that provides information about ongoing research studies and clinical trials for genetic conditions.

To learn more about genetic testing and Myosin Storage Myopathy, you can refer to the following resources:

Tajsharghi H, Oldfors A. Myosin storage myopathy. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2007-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK55043/
Genetic Testing Registry. MYH7. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/441/
Myosin storage myopathy. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/myosin-storage-myopathy

These resources can provide comprehensive information about the genetic testing process, the genetic causes of Myosin Storage Myopathy, and available support and advocacy options for individuals affected by this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a scientific resource center that provides information on genetic and rare diseases. It is a central source of information on testing, clinical trials, advocacy, and support for rare diseases.

Myosin storage myopathy is a genetic condition that affects the muscles. It is a rare myopathy that causes muscle weakness and other symptoms. This condition is caused by mutations in the MYH7 or MYH2 genes, which are involved in the production of myosin, a protein that plays a key role in muscle contraction.

The Genetic and Rare Diseases Information Center provides information on this condition and other rare diseases. It offers resources for patients, families, and healthcare providers, including information about the condition, its frequency, inheritance patterns, and available support and advocacy groups.

For more information about myosin storage myopathy, the Genetic and Rare Diseases Information Center provides references to scientific articles from PubMed and OMIM, as well as additional resources for research studies and clinical trials listed on ClinicalTrials.gov.

Learn more about myosin storage myopathy and other rare diseases by visiting the Genetic and Rare Diseases Information Center.

References:

Tajsharghi H. Myosin storage myopathy. 2011. In: GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-.
Tajsharghi H, Dalakas MC. 2006. Myosin storage myopathy. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. PMID: 20301488.
Oldfors A, Tajsharghi H. 2008. Myosinopathies: pathology and mechanisms. Acta Neuropathol. 115(4):427-437. PMID: 18224321.

Patient Support and Advocacy Resources

Below is a list of patient support and advocacy resources for individuals and families affected by Myosin Storage Myopathy:

Myosin Storage Myopathy Resources

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of genetic disorders and associated genes that can provide additional information on Myosin Storage Myopathy.
Rare Diseases is a resource center that offers information, support, and resources for individuals and families affected by rare diseases, including Myosin Storage Myopathy.
Genetic Testing Registry (GTR) provides information on genetic tests available for Myosin Storage Myopathy, including information on the frequency and inheritance of the condition.

Scientific Research and Articles

PubMed is a database of scientific research and articles that may contain information on the causes, diagnosis, and treatment of Myosin Storage Myopathy.
ClinicalTrials.gov is a registry of clinical studies and trials that are currently underway or recruiting participants for Myosin Storage Myopathy. It may provide information on new treatment options or research opportunities.

Support and Advocacy Organizations

Tajsharghi Lab is a research group that focuses on Myosin Storage Myopathy. They may have additional resources and information available on the condition.
Muscular Dystrophy Association (MDA) is an organization that provides support, advocacy, and resources for individuals and families affected by various muscle diseases, including Myosin Storage Myopathy.

These resources can help individuals and families learn more about Myosin Storage Myopathy, find support, connect with others who have the condition, and stay updated on the latest research and treatment options.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a scientific database that provides information on ongoing and completed clinical trials. These trials aim to further research on various genetic conditions, including myosin storage myopathy. By studying these trials, scientists hope to gain a better understanding of the causes and inheritance of this rare genetic muscle disorder.

One of the main goals of these studies is to identify the specific genes associated with myosin storage myopathy. This information can provide valuable insights into the underlying mechanisms of the condition and may lead to the development of better diagnostic and treatment options.

Furthermore, research supported by ClinicalTrials.gov focuses on identifying additional genes that may cause similar muscle diseases. By comparing the genetic characteristics of different muscle disorders, scientists can better understand the unique aspects of myosin storage myopathy and potentially discover new therapeutic targets.

ClinicalTrials.gov also provides resources for patients and advocacy groups involved in myosin storage myopathy. Their website offers a comprehensive catalog of clinical trials and research studies related to this condition and other rare genetic diseases. The website includes information on the frequency and inheritance patterns of myosin storage myopathy, as well as references to articles and publications for further reading.

Other sources of information and support for myosin storage myopathy can be found on websites such as PubMed, OMIM, and the Tajsharghi Center for Myosin Storage Myopathy Research. These resources offer information on the latest scientific discoveries, genetic testing options, and patient support networks.

Resources	Description
ClinicalTrials.gov	A scientific database providing information on ongoing and completed clinical trials for myosin storage myopathy and other rare genetic diseases.
PubMed	A database of scientific articles and publications related to myosin storage myopathy and genetic muscle disorders.
OMIM	An online catalog of human genes and genetic disorders, including myosin storage myopathy.
Tajsharghi Center for Myosin Storage Myopathy Research	A research center dedicated to studying myosin storage myopathy and providing resources and support for patients and their families.

By utilizing the scientific research studies and resources available through ClinicalTrials.gov, patients, healthcare professionals, and researchers can learn more about myosin storage myopathy and make informed decisions about genetic testing, treatment options, and patient care.

Catalog of Genes and Diseases from OMIM

Myosin storage myopathy is a rare genetic condition associated with mutations in the MYH7 gene and MYBPC3 gene. It is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the gene mutation on to each of their children.

The frequency of myosin storage myopathy is not well known, but it is considered to be a rare condition. The symptoms of myosin storage myopathy can vary widely from patient to patient, but often include muscle weakness, fatigue, and respiratory problems.

For more information about myosin storage myopathy, you can visit the OMIM (Online Mendelian Inheritance in Man) website. OMIM is a comprehensive catalog of genes and diseases, including myosin storage myopathy. The database provides information on the genetics, inheritance patterns, clinical features, and other associated conditions of myosin storage myopathy.

In the OMIM catalog, you can find information about the MYH7 and MYBPC3 genes, as well as other genes that may be associated with myosin storage myopathy. The catalog includes references to scientific articles and studies from PubMed, as well as additional resources and support for individuals and families affected by myosin storage myopathy.

If you are interested in genetic testing for myosin storage myopathy, you can search for available testing options on the OMIM website or consult with a genetic testing center. ClinicalTrials.gov may also have information on ongoing clinical trials related to myosin storage myopathy.

In summary, the OMIM catalog is a valuable resource for learning more about the genes, diseases, and inheritance patterns associated with myosin storage myopathy. It provides comprehensive and up-to-date information to support research, advocacy, and patient care in the field of rare genetic disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to myosin storage myopathy. It provides a vast collection of research studies and clinical trials that shed light on this rare genetic condition. With PubMed, patients and healthcare professionals can access evidence-based information about myopathy, its associated genes, and other potential causes of muscle weakness.

One of the main advantages of PubMed is its wide range of articles and studies. Researchers have conducted extensive investigations on myosin storage myopathy to better understand its frequency, inheritance patterns, and clinical features. Numerous published articles highlight the different genetic mutations in myosin genes that contribute to the development of this condition. For example, studies by Tajsharghi and Oldfors describe specific genetic variants associated with myosin storage myopathy.

In addition to research articles, PubMed also includes resources from OMIM (Online Mendelian Inheritance in Man) and other genetic databases. These catalogs provide valuable information on the specific genes, frequency, and inheritance patterns of myosin storage myopathy. Patients and healthcare professionals can access detailed information about the condition, including its clinical features, diagnostic testing, and recommended treatment approaches.

Patient advocacy organizations also support the dissemination of scientific information about myosin storage myopathy. They play a crucial role in raising awareness, funding research, and supporting affected individuals and their families. PubMed provides access to studies sponsored by these organizations, giving readers a comprehensive overview of the current research landscape.

When searching on PubMed, it is important to use specific terms related to myosin storage myopathy. These include keywords such as “myopathy,” “myosin,” “muscles,” “genetic,” “storage,” and “inheritance.” By including these terms in your search, you can narrow down the results and find articles specifically related to this condition. PubMed also offers additional filters to refine your search by article type, publication date, and more.

Overall, PubMed is a valuable tool for accessing scientific articles on myosin storage myopathy. It provides a wealth of information on the genetics, clinical features, and management of this rare genetic condition. Whether you are a healthcare professional seeking research articles or a patient looking to learn more about your condition, PubMed offers a wealth of resources to support your needs.

References

Pubmed: A database of scientific articles providing information about myosin storage myopathy and its associated genes. Available at: https://pubmed.ncbi.nlm.nih.gov/
OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders, including information about myosin storage myopathy. Available at: https://www.omim.org/
Tajsharghi, H. and Oldfors, A., 2013. Myosin storage myopathy. In: GeneReviews®. University of Washington, Seattle. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1128/
Advocacy resources: Organizations providing support and additional information for patients with myosin storage myopathy. Available at: https://www.myosinmyopathy.org/
ClinicalTrials.gov: A database of clinical trials related to myosin storage myopathy and other genetic muscle conditions. Available at: https://www.clinicaltrials.gov/
Scientific studies: Research articles providing more information about myosin storage myopathy, its causes, and genetic inheritance. Available at: https://www.researchgate.net/