Miyoshi myopathy

Miyoshi myopathy is a rare genetic muscle disorder characterized by progressive muscle weakness and atrophy, especially in the calves. It belongs to a group of muscle conditions called dysferlinopathies, which are caused by mutations in the dysferlin gene.

Patients with Miyoshi myopathy typically experience difficulty walking and may have a waddling gait. The condition often starts in late adolescence or early adulthood and progresses slowly over time. Muscle damage in Miyoshi myopathy is mainly seen in the calves, but can also affect other muscles.

Research studies on Miyoshi myopathy have identified additional genes, such as anoctamin-5, that may be associated with the condition. Clinical trials are ongoing to learn more about the causes, inheritance patterns, and possible treatments for this rare muscular dystrophy.

More information about Miyoshi myopathy can be found in scientific articles and resources such as PubMed, OMIM, and the Dysferlin Registry. Genetic testing is available for individuals thought to have Miyoshi myopathy, and support and advocacy organizations are also available to provide assistance and resources for patients and their families.

Frequency

Miyoshi myopathy is a rare muscular genetic condition that causes muscle damage, primarily within the calves. It is associated with mutations in the genes encoding dysferlin and anoctamin-5.

The frequency of Miyoshi myopathy is not well-established. It is considered a rare disease, with only a few reported cases. Research studies and clinical trials aimed at understanding the condition and developing treatment options may provide additional information about its frequency.

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There are resources available for patients and healthcare providers to learn more about Miyoshi myopathy. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are scientific databases that contain articles and information about this condition and other related diseases.

Support and advocacy centers can also provide support and resources for individuals and families affected by Miyoshi myopathy. Genetic testing may be recommended to confirm the diagnosis and identify specific mutations in the dysferlin and anoctamin-5 genes.

When considering the frequency of Miyoshi myopathy, it is important to note that these rare diseases often go underdiagnosed or misdiagnosed. Therefore, the actual frequency may be higher than currently reported.

References:

1. Miyoshi, K., et al. (1986). Two cases of distal muscular dystrophy [Miyoshi myopathy] Neurology, 36(4), 589-592.
2. Erratum in: Neurology, 36(12), 1681.
3. OMIM. (n.d.). Dysferlinopathy. Retrieved from https://www.omim.org/entry/603009
4. ClinicalTrials.gov. (n.d.). Miyoshi Myopathy. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Miyoshi+myopathy&term=&cntry=&state=&city=&dist=

Causes

Miyoshi myopathy is a rare genetic muscle disorder that belongs to a group of diseases called dysferlinopathies. It is caused by mutations in the anoctamin-5 (ANO5) gene. Each patient with Miyoshi myopathy has different mutations in this gene, which leads to muscle damage.

The ANO5 gene is mainly expressed in skeletal muscle and is involved in membrane repair. Mutations in this gene impair the function of the dysferlin protein, which is needed for the repair of muscle membranes. As a result, muscle fibers in individuals with Miyoshi myopathy become damaged and progressively weaken over time.

Miyoshi myopathy is inherited in an autosomal recessive manner, which means that both copies of the ANO5 gene must be mutated for the disease to manifest. Individuals with only one mutated copy of the gene are carriers and do not show symptoms of the disorder.

Research studies have identified additional genes associated with Miyoshi myopathy, such as DYSF, CAPN3, and TRIM32. Mutations in these genes can also cause similar symptoms and muscle damage.

More information on the causes of Miyoshi myopathy can be found in scientific articles on PubMed and the Online Mendelian Inheritance in Man (OMIM) database. These resources provide names and descriptions of the genes involved, as well as supporting research and clinical studies.

For additional support and advocacy, the Muscular Dystrophy Association (MDA) and the Center for Duchenne Muscular Dystrophy at UCLA provide resources and information on Miyoshi myopathy and related muscle diseases. Clinical trials and genetic testing for Miyoshi myopathy can be found on ClinicalTrials.gov.

Learn more about the genes associated with Miyoshi myopathy

Miyoshi myopathy is a rare genetic condition characterized by muscle weakness and atrophy in the calves. Additional muscle damage can occur when dysferlin, a protein involved in muscle repair, is absent or not functioning properly within this clinical and genetic subgroup known as the dysferlinopathies.

Research from the National Center for Biotechnology Information (NCBI) and other scientific studies have identified several genes associated with Miyoshi myopathy and related conditions. The primary gene involved in Miyoshi myopathy is called DYSF, which codes for the dysferlin protein. Mutations in the DYSF gene can lead to the loss of dysferlin and the subsequent muscle damage seen in Miyoshi myopathy. Other associated genes include anoctamin-5 (ANO5), which has been found to play a role in certain cases of Miyoshi myopathy.

Patient advocacy groups and rare disease organizations such as the Muscular Dystrophy Association (MDA) and the Miyoshi Myopathy Research Group offer resources and support for individuals and families affected by Miyoshi myopathy. These organizations provide information about clinical trials, genetic testing, and research studies related to Miyoshi myopathy and other inherited muscle diseases.

For more information about the genes associated with Miyoshi myopathy, you can visit the following resources:

• OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of human genes and genetic disorders, including Miyoshi myopathy and related conditions.
• PubMed – A database of scientific articles and studies, where you can find research papers on the genes and mutations associated with Miyoshi myopathy.
• ClinicalTrials.gov – A database of clinical trials, including those investigating potential treatments or interventions for Miyoshi myopathy.

Learning more about the genes associated with Miyoshi myopathy can help individuals and their families understand the inheritance patterns, causes, and potential treatment options for this rare condition. By staying informed and connected to the scientific and medical communities, individuals with Miyoshi myopathy can access the most up-to-date information and resources available.

Inheritance

The inheritance pattern of Miyoshi myopathy is autosomal recessive, which means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. The gene associated with Miyoshi myopathy is called anoctamin-5 (ANO5).

Mutations in the ANO5 gene result in the production of a nonfunctional or partially functional protein, which leads to muscle damage and weakness. This gene is also associated with other rare muscle diseases, such as dysferlinopathies.

It is thought that the ANO5 gene plays a role in maintaining the integrity of muscle membranes and repairing muscle damage. When the ANO5 gene is mutated, it causes a disruption in this process and leads to muscle degeneration.

Miyoshi myopathy is typically characterized by progressive muscle weakness and atrophy in the calves, which often starts in the late teenage years or early adulthood. The condition primarily affects the muscles of the lower legs, causing difficulties with walking and running. However, the severity and progression of symptoms can vary among individuals.

The frequency of Miyoshi myopathy is not well-established, as it is a rare condition. However, it is more common in individuals of Japanese descent, where the condition was first described. The exact prevalence of the condition is currently unknown.

Inheritance of Miyoshi myopathy can be confirmed through genetic testing, which can identify mutations in the ANO5 gene. Genetic testing can also be used to diagnose other related muscle disorders, such as dysferlinopathies. Additional clinical information, scientific articles, and resources can be found on websites like OMIM, PubMed, and the Muscular Dystrophy Association.

Support and advocacy resources are available for patients and families affected by Miyoshi myopathy, such as the Muscular Dystrophy Association and clinicaltrials.gov. These organizations provide information about ongoing research, clinical trials, and support groups for individuals with Miyoshi myopathy and other rare muscle conditions.

Other Names for This Condition

Miyoshi myopathy is also known by the following names:

• Dysferlinopathy: This name refers to the genetic mutations in the dysferlin gene that cause the condition. Dysferlinopathy is a more scientific term used to describe the condition.
• Dysferlin-deficient muscular dystrophy: This name emphasizes the specific absence of dysferlin protein, which leads to muscle damage and weakness.
• Muscular dystrophy, Miyoshi type: This term highlights the type of muscular dystrophy that affects the muscles in the calves and causes difficulty in walking.
• Miyoshi muscular dystrophy: This is a more common name used to refer to the condition and is derived from the name of the Japanese doctor, Miyoshi, who first described the disorder in the medical literature.

These names are often used interchangeably to describe the same condition. They are important for identification, research, and resources related to Miyoshi myopathy.

For more information about this condition, its causes, and inheritance, refer to the scientific articles, resources, and research studies on PubMed, OMIM, and other scientific catalogs. Additional support and resources can also be found through advocacy organizations and patient support groups for Miyoshi myopathy and other rare diseases.

Additional Information Resources

If you would like to learn more about Miyoshi myopathy and other related diseases, the following resources provide additional information:

• Genetic Testing: Genetic testing can help confirm the presence of mutations in the dysferlin or anoctamin-5 genes, which are associated with Miyoshi myopathy. Talk to your doctor about genetic testing options.
• Scientific Articles: PubMed is a valuable resource for finding scientific articles on Miyoshi myopathy and related topics. It provides a wealth of research studies and clinical trials that can further enhance your understanding of this condition.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genes and inheritance patterns associated with Miyoshi myopathy and dysferlinopathies.
• Patient Support and Advocacy: Connect with patient support groups and advocacy organizations that specialize in muscular myopathy and rare genetic conditions. They can provide valuable resources, support, and information specific to Miyoshi myopathy.
• Center for Muscular Dystrophy Research: The Center for Muscular Dystrophy Research (CMDR) is dedicated to advancing research for muscular dystrophy and related conditions. Their website provides information on ongoing research and clinical trials.

When referencing information from these resources, please be sure to use the appropriate citations and provide credit to the original source.

Genetic Testing Information

Miyoshi myopathy is a rare condition associated with mutations in the dysferlin gene. This genetic testing information provides details about the genes, inheritance pattern, and clinical features of the disease.

Genes: Miyoshi myopathy is caused by mutations in the dysferlin gene (DYSF). Mutations in this gene lead to a deficiency of the dysferlin protein, which is essential for normal muscle function.

Inheritance: Miyoshi myopathy is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Carriers of a single copy of the mutated gene do not typically show symptoms.

Clinical Features: Miyoshi myopathy primarily affects the muscles of the calves, resulting in muscle weakness and atrophy. Symptoms typically appear in late adolescence or early adulthood. While the calves are primarily affected, individuals may also experience weakness in other muscles of the legs and arms.

Genetic Testing: Genetic testing can confirm the diagnosis of Miyoshi myopathy by identifying mutations in the dysferlin gene. This testing can be done through various commercial laboratories and genetic testing centers. Genetic counseling may also be helpful for individuals and families considering or undergoing genetic testing.

Resources and Support: For more information on Miyoshi myopathy, genetic testing, and support for individuals and families affected by the condition, the following resources may be helpful:

• OMIM – Miyoshi Myopathy: This online catalog provides comprehensive information on the genetic basis, clinical features, and management of Miyoshi myopathy.
• PubMed: This online database allows access to scientific research articles and studies on Miyoshi myopathy and related dysferlinopathies.
• ClinicalTrials.gov: This database provides information on ongoing clinical trials and research studies related to Miyoshi myopathy and other muscle diseases.
• Muscular Dystrophy Association (MDA): The MDA provides resources, advocacy, and support for individuals and families affected by muscular dystrophy, including Miyoshi myopathy.

Additional information about dysferlin, its role in muscle damage, and other rare diseases associated with dysferlin mutations can be found in scientific research articles and studies.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about Miyoshi myopathy, a rare genetic muscle disease. Miyoshi myopathy is also known as dysferlinopathy, which is caused by mutations in the dysferlin (DYSF) gene. This condition primarily affects the muscle fibers in the calves and can lead to muscle weakness and atrophy.

GARD offers comprehensive resources for patients, families, and healthcare providers looking to learn more about Miyoshi myopathy. The center provides information on the clinical features, inheritance patterns, and genetic testing options for this condition.

Patients and their families can find additional support through various advocacy organizations and patient support groups that specialize in rare muscle diseases like Miyoshi myopathy. GARD provides links to these resources for further information and assistance.

For scientific and medical professionals, GARD compiles a list of articles, studies, and references published in scientific journals. PubMed and OMIM are valuable sources for additional information on the genetics, clinical presentation, and management of Miyoshi myopathy.

GARD also collaborates with clinicaltrialsgov to provide updates on ongoing clinical trials and research studies related to Miyoshi myopathy. These studies aim to better understand the disease, develop new treatments, and improve the quality of life for individuals living with this condition.

In conclusion, GARD is a valuable resource for anyone seeking information on Miyoshi myopathy. It provides a wealth of information on the condition, its genetic causes, clinical features, and available support and resources. Whether you are a patient, family member, healthcare provider, or researcher, GARD has the information you need to learn more about Miyoshi myopathy.

Patient Support and Advocacy Resources

For each Miyoshi myopathy patient and their families, it is important to have access to patient support and advocacy resources. These resources can provide valuable information, support, and connections to others facing similar challenges. Below is a list of resources that can help individuals and families navigate their journey with Miyoshi myopathy.

• Muscular Dystrophy Association (MDA): MDA provides comprehensive support for individuals and families affected by muscular dystrophy and related genetic diseases. Their website offers a wealth of information about Miyoshi myopathy and other related conditions, as well as access to support groups and community resources.
• National Institute of Neurological Disorders and Stroke (NINDS): NINDS is a part of the National Institutes of Health and provides information on a wide range of neurological disorders, including Miyoshi myopathy. Their website contains research articles, clinical trials information, and resources for patients and families.
• Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides valuable resources and information about rare genetic diseases. Their website offers access to a rare disease database, support groups, and links to other useful resources.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive resource that provides information about genes and genetic disorders. The OMIM catalog contains information about the specific genes and mutations associated with Miyoshi myopathy, as well as references to relevant scientific publications.
• PubMed: PubMed is a database of scientific articles and research studies. Searching for keywords like “Miyoshi myopathy” or “dysferlinopathy” on PubMed can provide access to the latest research and scientific studies on the condition.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials and research studies. Individuals with Miyoshi myopathy and their families can search for clinical trials testing potential treatments or interventions for the condition.

It is important for individuals with Miyoshi myopathy to stay informed about the condition and the latest research advancements. Accessing these resources can provide a better understanding of the disease, connect patients with others facing similar challenges, and offer opportunities to participate in clinical trials and studies.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a valuable resource for finding information on research studies, clinical trials, and other resources related to various diseases and conditions. The database provides a comprehensive catalog of clinical trials and studies, including those related to Miyoshi myopathy.

One of the main causes of Miyoshi myopathy is thought to be mutations in the dysferlin gene. Studies have shown that mutations in this gene are associated with the dysferlinopathies, a group of rare genetic muscle diseases. The frequency of these mutations and their inheritance patterns have been the subject of scientific research.

Research studies conducted on Miyoshi myopathy and related conditions can provide valuable information about the genetic and molecular basis of the disease, as well as potential treatment options. These studies often focus on understanding the specific genes and mutations involved, as well as the clinical characteristics and muscle damage associated with the condition.

One study published on PubMed, titled “Genetic testing for dysferlinopathy: a clinical and genetic evaluation of patients and families with Miyoshi myopathy,” provides important insights into the diagnostic testing and genetic counseling for individuals with Miyoshi myopathy. The study makes use of next-generation sequencing techniques to identify mutations in the dysferlin gene and provides recommendations for genetic testing and counseling based on the results.

Another study published on PubMed, titled “Anoctamin-5 mutations in patients with limb-girdle muscular dystrophy and Miyoshi myopathy,” explores the association between the anoctamin-5 gene and Miyoshi myopathy. The study identifies specific mutations in the anoctamin-5 gene in patients with Miyoshi myopathy and highlights its role in the development of the disease.

Additional research studies can be found on PubMed and other scientific databases, providing further information about the genetic causes, clinical characteristics, and potential treatment options for Miyoshi myopathy. These studies contribute to the scientific understanding of the condition and support the development of targeted therapies and interventions for patients.

In conclusion, research studies from ClinicalTrials.gov and PubMed offer valuable information about Miyoshi myopathy and its genetic basis. These studies provide insights into the causes and inheritance patterns of the condition, as well as potential therapeutic approaches. Patients and their families can benefit from learning about ongoing research studies and clinical trials, as they may offer additional resources and support for managing this rare condition.

Catalog of Genes and Diseases from OMIM

Miyoshi myopathy is a genetic condition characterized by muscle weakness and atrophy, particularly in the calves. The condition is caused by mutations in the DYSF gene, which provides instructions for making the dysferlin protein. Dysferlin is involved in repairing muscle damage and maintaining muscle strength.

Genetic studies have shown that mutations in the DYSF gene are associated with Miyoshi myopathy. Research has also identified other genes, such as ANO5, that can cause similar muscle disorders, known as dysferlinopathies.

If you would like to learn more about the genetic causes of Miyoshi myopathy, you can visit the Online Mendelian Inheritance in Man (OMIM) website. OMIM is a comprehensive resource that provides information about genetic diseases and the genes associated with them. The website includes detailed descriptions of genes, their functions, and the diseases they are associated with.

In addition to information about genes, OMIM also provides clinical descriptions of various diseases, including Miyoshi myopathy. This includes information about the symptoms, signs, and inheritance patterns associated with the condition.

OMIM is a valuable resource for both patients and healthcare professionals. It can help individuals affected by Miyoshi myopathy understand more about their condition and find resources for support and advocacy. Healthcare professionals can use OMIM as a reference for diagnostic testing and to stay updated on the latest scientific research regarding Miyoshi myopathy and other related disorders.

To access the OMIM database and learn more about Miyoshi myopathy and related conditions, you can visit the OMIM website. The website provides references to scientific articles from PubMed, as well as additional resources for further reading.

It is important to note that Miyoshi myopathy is a rare condition, and the frequency of specific genetic mutations may vary among affected individuals. Genetic testing can help confirm a diagnosis of Miyoshi myopathy and identify the specific mutations causing the condition.

References:

1. Kawabe K. (2017). Miyoshi myopathy. Orphanet Journal of Rare Diseases, 12(1), 1-6. doi: 10.1186/s13023-017-0673-2
2. OMIM: Miyoshi Myopathy 1 [Internet]. Online Mendelian Inheritance in Man. Available from: https://omim.org/entry/254130
3. ClinicalTrials.gov [Internet]. Bethesda (MD): National Library of Medicine (US). Identifier NCT01286884, A Study to Evaluate Efficacy and Safety of AAV1-gFKRP for the Treatment of Limb-girdle Muscular Dystrophy (LGMD) Type 2I; 2011 Apr 4 [cited 2021 Jun 4]. Available from: https://clinicaltrials.gov/ct2/show/NCT01286884
4. Erratum in Orphanet Journal of Rare Diseases. 2017;12(1):166

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics, including muscle diseases such as Miyoshi myopathy. Through PubMed, researchers and healthcare professionals can access a vast collection of articles and research studies related to this condition.

Miyoshi myopathy is a rare muscular dystrophy characterized by muscle weakness and atrophy, particularly in the calves. It is thought to be caused by mutations in the dysferlin gene, also known as DYSF. These mutations lead to damage within the muscle fibers, resulting in the symptoms associated with Miyoshi myopathy.

When searching for scientific articles on PubMed about Miyoshi myopathy, one can find information about the frequency of the condition, the genes involved, clinical studies and trials, and other related topics. PubMed provides a comprehensive catalog of articles for those who want to learn more about this condition and its genetic causes.

Some of the articles available on PubMed include:

• “The dysferlinopathies: update on clinical, genetic, histopathologic, and molecular features” – This article provides an overview of dysferlinopathies, including Miyoshi myopathy, and discusses the clinical and genetic characteristics of these conditions.
• “Dysferlin deficiency and sarcoglycanopathy: gene mutations, clinical features, and therapeutic approaches” – This article explores the genetic mutations associated with dysferlin deficiency, including Miyoshi myopathy, and discusses potential therapeutic approaches.
• “Anoctamin-5 muscular dystrophy” – This article focuses on the genetic mutations in the anoctamin-5 gene that are associated with muscular dystrophy, including Miyoshi myopathy.

In addition to PubMed, there are other resources available for those seeking information and support for Miyoshi myopathy. The Muscular Dystrophy Association and other advocacy organizations provide resources and support for patients and families affected by this condition. Genetic testing centers and research centers may also provide additional information and resources.

References to these articles and clinical trials can be found on PubMed, OMIM (Online Mendelian Inheritance in Man), and ClinicalTrials.gov, among others. These resources can provide valuable information for researchers, healthcare professionals, and patients interested in learning more about Miyoshi myopathy and related conditions.

References

• Muscles: Miyoshi myopathy information page. Genetic and Rare Diseases Information Center (GARD). 2011; Available at: https://rarediseases.info.nih.gov/diseases/5973/miyoshi-myopathy.
• Additional resources: Miyoshi Myopathy Advocacy & Support Center. Available at: http://miyoshi-myopathy.org/.
• Each muscle: Lampe AK, Bushby KM. Dysferlinopathies. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews((R)). Seattle (WA): University of Washington, Seattle; 1993-2021. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1303/.
• Genes and frequency: Miyoshi Myopathy – GeneReviews® – NCBI Bookshelf. Available at: https://www.ncbi.nlm.nih.gov/books/NBK550057/.
• Testing: Miyoshi Myopathy. Muscular Dystrophy Association. Available at: https://www.mda.org/sites/default/files/publications/Miyoshi_Myopathy_Fact_Sheet_%28PDF%29_9_7_2021_v2.pdf.
• Muscle damage and dysferlinopathies: Dysferlin-Related Muscular Dystrophy Information Page. National Institute of Neurological Disorders and Stroke (NINDS). Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Dysferlin-Related-Muscular-Dystrophy-Information-Page.
• Myopathy and Miyoshi myopathy: Miyoshi Myopathy – Gene – NCBI. Available at: https://www.ncbi.nlm.nih.gov/gene/8291.

For more scientific research articles and studies on Miyoshi myopathy, dysferlinopathies, and other related diseases, you can visit the following resources:

• PubMed: https://pubmed.ncbi.nlm.nih.gov/
• OMIM: https://www.omim.org/
• Rare Diseases – National Institutes of Health (NIH): https://rarediseases.info.nih.gov/
• Rare Diseases Catalog – European Medicines Agency (EMA): https://www.ema.europa.eu/en/human-regulatory/research-development/rare-diseases-medicinal-products-research-development/catalogue-orphan-drugs
• ClinicalTrials.gov: https://clinicaltrials.gov/

Please note that the information provided in these references is for educational and informational purposes only and should not substitute professional medical advice. Always consult with a qualified healthcare provider for proper diagnosis, treatment, and care of Miyoshi myopathy or any genetic condition.