Brody myopathy

Published Categorized as Genetics
Brody myopathy

Brody myopathy is a rare condition caused by a mutation in the gene called SERCA1, also known as ATP2A1. This gene is responsible for the production of a protein that helps in the normal contraction and relaxation of skeletal muscles. The mutation in the SERCA1 gene disrupts the function of this protein, leading to muscle weakness and fatigue.

Brody myopathy is named after the Polish scientist, Rudolf Brody, who first described this condition in 1969. It is also referred to by other names such as Brody disease, Brody syndrome, or Brody-like myopathy. It is a very rare disease, and only a few hundred cases have been reported in the scientific literature.

The symptoms of Brody myopathy can vary from person to person, but they typically include muscle cramps, stiffness, and weakness during exercise or physical activity. These symptoms may be more pronounced in the muscles used for strong contractions, such as the arms and legs.

Diagnosing Brody myopathy can be challenging since the symptoms are similar to those of other muscle diseases. Genetic testing can be done to confirm the presence of the mutation in the SERCA1 gene. Additional testing, such as muscle biopsy or calcium imaging, may also be done to rule out other causes and examine the function of the muscles.

Currently, there is no specific treatment for Brody myopathy, but the symptoms can be managed with physical therapy and exercise. Research is ongoing to better understand the underlying mechanisms of this condition and develop targeted therapies. The Brody Disease Medical Research Center and other advocacy organizations provide resources and support for patients and their families. More information on Brody myopathy can be found in the OMIM catalog, PubMed articles, and scientific journals.

Frequency

Brody myopathy is a rare genetic condition. The frequency of this myopathy is not well documented, but it is considered to be a rare disease.

Mutations in the ATP2A1 gene cause Brody myopathy. This gene provides instructions for making a protein called sarcoendoplasmic reticulum calcium ATPase 1 (SERCA1). SERCA1 is involved in the regulation of calcium levels in skeletal muscles.

There is limited scientific literature on Brody myopathy, and more research is needed to fully understand its frequency and inheritance patterns. Testing for genetic mutations in the ATP2A1 gene can provide more information about this condition.

Additional resources and support for patients with Brody myopathy can be found at the Brody Myopathy Center, which offers advocacy and information on this condition.

References
1. Odermatt A, et al. (1996) Nature Genet. 14:191-194.
2. Schaub MC, et al. (2007) J Gen Physiol. 129:283-95.
3. OMIM #601011: BRODM1; Brody myopathy.
4. PubMed – Brody myopathy.

Causes

Brody myopathy, also known as Brody disease or Brody syndrome, is a rare genetic condition that affects skeletal muscles. It is caused by a mutation in the ATP2A1 gene, which encodes the sarcoendoplasmic reticulum calcium ATPase 1 (SERCA1) protein.

SERCA1 is responsible for the regulation of calcium levels in muscle cells. In patients with Brody myopathy, the mutation in the ATP2A1 gene impairs the function of the SERCA1 protein, leading to an inability of muscle cells to properly contract and relax.

This condition is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop Brody myopathy. Carriers of a single mutation in the ATP2A1 gene do not typically show any symptoms of the condition.

The exact prevalence of Brody myopathy is unknown, but it is considered to be a rare disease. The frequency of the ATP2A1 gene mutation in the general population is also unclear. Other names associated with Brody myopathy include “Karpati myopathy” and “skeletal muscle-specific SERCA1 deficiency.”

For more information about the causes of Brody myopathy, there are additional resources available online, such as articles on OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic and Rare Diseases Information Center (GARD) catalog. Genetic testing can also be done to confirm a diagnosis and learn more about the specific genes associated with this rare condition.

Patient advocacy and support groups can provide valuable resources and information for individuals and families affected by Brody myopathy.

Learn more about the gene associated with Brody myopathy

Brody myopathy is a rare genetic condition that affects the skeletal muscles. It is caused by a mutation in the SERCA1 gene, also known as ATP2A1.

The SERCA1 gene encodes a protein called sarcoendoplasmic reticulum calcium ATPase 1 (SERCA1). This protein is essential for the proper transport of calcium ions in muscle cells. Mutations in the SERCA1 gene lead to dysfunction of the protein, resulting in impaired calcium homeostasis and muscle contractility.

Brody myopathy is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene, one from each parent, to develop the condition.

The frequency of Brody myopathy is unknown, but it is considered to be a rare disease. The exact prevalence of the condition is difficult to determine due to its rarity and the lack of comprehensive population studies.

For more information on Brody myopathy, the following resources can be helpful:

In addition, there are several patient support and advocacy organizations that provide resources and support for individuals with Brody myopathy and other rare genetic diseases. Some of these organizations include:

  • The Brody Myopathy Information Center: A center dedicated to providing information and support for individuals with Brody myopathy and their families.
  • Rare Diseases Support Network: An organization that offers resources and support for individuals with rare diseases, including Brody myopathy.

Genetic testing can be performed to confirm the diagnosis of Brody myopathy. This can involve sequencing the SERCA1 gene to identify any mutations. Additionally, muscle biopsy may be used to examine the muscle tissue for abnormalities associated with the condition.

Brody myopathy is a rare and complex condition, and additional research is needed to fully understand its causes, inheritance patterns, and potential treatments. Scientific and medical communities continue to investigate this condition to provide better care and support for affected individuals.

Inheritance

The Brody myopathy, also known as sarcoendoplasmic reticulum calcium ATPase 1 (SERCA1) myopathy, is a rare genetic condition associated with skeletal muscle diseases.

This rare condition is caused by mutations in the ATP2A1 gene, which encodes for the SERCA1 protein. The SERCA1 protein plays a crucial role in the contract and relaxation of muscles by maintaining calcium levels within muscle cells.

The inheritance of Brody myopathy follows an autosomal recessive pattern, meaning that both parents must carry one copy of the mutated gene for the condition to be inherited. If both parents are carriers, there is a 25% chance for each child to be affected.

Brody myopathy is one of the few genetic muscle diseases associated with the ATP2A1 gene. There are other genetic diseases that can cause muscle weakness and similar symptoms, such as muscular dystrophies or congenital myopathies. Genetic testing can help to differentiate between these conditions and confirm a diagnosis of Brody myopathy.

See also  MECP2 gene

Patient advocacy groups and scientific research centers provide additional information and support for individuals and families affected by Brody myopathy. Resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, and genetic testing centers can be helpful in learning more about the condition and its causes.

It is important for individuals with Brody myopathy and their families to stay informed about the latest scientific research and medical advances. By staying actively involved in the community and seeking support from advocacy groups, individuals affected by Brody myopathy can better understand and manage their condition.

Other Names for This Condition

Brody myopathy is also known by several other names, including:

  • Skeletal muscle sarcoplasmic reticulum Ca2+-ATPase-1 deficiency
  • Sarcoplasmic reticulum ATPase1 deficiency
  • SERCA1 deficiency

This condition is a rare genetic disorder that affects the muscles. It is associated with a mutation in the SERCA1 gene, which is responsible for the production of the sarcoendoplasmic reticulum calcium ATPase 1 protein. This protein plays a crucial role in the contraction and relaxation of skeletal muscles by regulating the levels of calcium ions within muscle cells.

Brody myopathy is inherited in an autosomal recessive pattern, which means that both copies of the SERCA1 gene must be mutated in order for the condition to develop. The frequency of this condition is not well understood, but it is considered to be rare.

For more information about Brody myopathy, including its causes, symptoms, and treatment options, you can refer to the following resources:

Additionally, there are advocacy and support organizations that can provide further information and resources for patients and families affected by this condition. These include:

  • Brody Myopathy Advocacy
  • Brody Myopathy Support Center

Genetic testing can confirm a diagnosis of Brody myopathy, and additional testing may be done to determine the specific mutation in the SERCA1 gene. To learn more about genetic testing, you can refer to the following scientific articles:

References:

  1. Brody myopathy. (n.d.). Genetic and Rare Diseases Information Center. Retrieved January 20, 2022, from https://rarediseases.info.nih.gov/diseases/2487/brody-myopathy
  2. Brody myopathy. (n.d.). OMIM. Retrieved January 20, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK1518/
  3. Brody myopathy. (n.d.). PubMed. Retrieved January 20, 2022, from https://pubmed.ncbi.nlm.nih.gov/?term=brody+myopathy
  4. Khan, A., & Scruggs, S. B. (2020). Brody myopathy. StatPearls Publishing. Retrieved January 20, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK551702/

Additional Information Resources

Here are some additional resources for learning more about Brody myopathy and related diseases:

  • Scientific Articles: You can find a wealth of information about Brody myopathy and other associated diseases in scientific articles. PubMed is a great resource for accessing these articles.
  • Genetic Testing: If you or a patient you know is suspected of having Brody myopathy, genetic testing can provide valuable information. The Genetic Testing Center offers testing and support for rare genetic conditions like Brody myopathy.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. You can find detailed information about the SERCA1 gene and links to relevant articles on Brody myopathy.
  • Advocacy Groups: There are several advocacy groups and organizations that provide support and resources for individuals and families affected by rare diseases. These groups can provide valuable information and connect you with others who are dealing with similar conditions.

By accessing these resources, you can learn more about the causes, inheritance patterns, and frequency of Brody myopathy and other skeletal muscle diseases associated with calcium contractility. Additionally, you can find information about genetic testing, patient support, and other resources available to help individuals and families affected by Brody myopathy.

Genetic Testing Information

Brody myopathy, also known as Brody muscle weakness, is a rare genetic condition that affects the skeletal muscles. It is caused by mutations in the gene called SERCA1 (sarcoendoplasmic reticulum calcium ATPase 1), which is responsible for regulating calcium levels in the muscles.

This condition is inherited in an autosomal recessive manner, meaning that both copies of the SERCA1 gene must be mutated for a person to develop Brody myopathy. Individuals with only one copy of the mutation are carriers and do not typically show symptoms of the condition.

Genetic testing can be useful in diagnosing Brody myopathy and confirming the presence of a mutation in the SERCA1 gene. This testing can be done through various methods, such as DNA sequencing or gene panel testing, to look for specific mutations associated with the condition.

Genetic testing for Brody myopathy can provide valuable information for patients, their families, and healthcare providers. It can confirm a diagnosis, inform treatment decisions, and provide information about the inheritance pattern of the condition.

If you or someone you know has been diagnosed with Brody myopathy or is at risk for the condition, there are resources available to provide support and additional information. Patient advocacy organizations, such as the Brody Myopathy Advocacy Group, can offer guidance and connect individuals with others who have experience with the condition.

For scientific articles and research on Brody myopathy and related diseases, the Genetic Testing Catalog (GTR) provides a comprehensive list of available resources. You can find more information about the condition, its frequency, associated genes, and mutation names on the GTR website.

Additional information about Brody myopathy and its genetic causes can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources offer a wealth of information and references to scientific articles and publications on the topic for those seeking to learn more.

In conclusion, genetic testing can provide valuable information about the genetic causes of Brody myopathy and help in diagnosing the condition. It is an important tool for patients, families, and healthcare providers in understanding and managing this rare disease.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides information about rare and genetic diseases. GARD collects and disseminates reliable and up-to-date information about these conditions to patients, families, healthcare professionals, and the general public.

The center gathers information from various sources, including scientific articles, patient advocacy groups, and other resources. It offers additional resources, such as genetic testing information, names of genes associated with rare diseases, and frequency of these diseases in the population.

GARD provides information on a wide range of rare diseases, including Brody myopathy, also called Brody syndrome or Brody disease. This rare muscle disorder is associated with a mutation in the SERCA1 gene, which is responsible for the regulation of calcium in skeletal muscles.

Brody myopathy is characterized by difficulties in muscle relaxation after contraction, leading to muscle stiffness and weakness. The condition affects both males and females, and its inheritance pattern is not fully understood.

GARD offers detailed information on Brody myopathy, including symptoms, diagnosis, treatment options, and possible prognosis. The center also provides references to scientific articles, clinical studies, and patient support organizations for further information and support.

See also  CHRNA4 gene

For more information about Brody myopathy and other genetic and rare diseases, visit the Genetic and Rare Diseases Information Center website. You can learn about the causes, symptoms, inheritance patterns, and available treatments for various rare diseases.

References:

  • Karpati G, Odermatt A. Brody disease: contractures and muscle stiffness due to deficiency of sarcoendoplasmic reticulum Ca2+ ATPase 1. Acta Myol. 2012;31(3):156-160. PubMed PMID: 23346277.

  • OMIM entry for Brody myopathy. Online Mendelian Inheritance in Man. Updated July 16, 2020. Accessed August 20, 2021.

Disclaimer: This article is for informational purposes only and should not be used as a substitute for professional medical advice. Always consult your healthcare provider for diagnosis and treatment options.

Patient Support and Advocacy Resources

Brody myopathy is a rare genetic condition associated with mutations in the gene called SERCA1. This condition affects the skeletal muscles and causes difficulties with muscle contraction.

If you or someone you know has been diagnosed with Brody myopathy, it can be helpful to connect with patient support and advocacy resources. These resources provide additional information, support, and connections to others who may be dealing with similar challenges.

Here are some patient support and advocacy resources for Brody myopathy:

  • Brody Myopathy Patient Support Center – The Brody Myopathy Patient Support Center is a center dedicated to providing support and resources for individuals and families affected by Brody myopathy. They offer information about the condition, patient stories, and additional resources.
  • Genetic and Rare Diseases Information Center – This center provides information about rare diseases like Brody myopathy. They offer resources on various aspects of the condition, including symptoms, diagnosis, treatment options, and genetic testing.
  • OMIM](https://omim.org/) – OMIM (Online Mendelian Inheritance in Man) is a comprehensive online resource that provides information about genetic conditions. They offer detailed information about the genes associated with Brody myopathy, including the SERCA1 gene.
  • PubMed – PubMed is a scientific database that provides access to articles and research studies on various medical conditions, including Brody myopathy. Searching for “Brody myopathy” on PubMed can help you find the latest scientific research and studies related to this condition.
  • Genetic Testing – Genetic testing can be an important tool in diagnosing Brody myopathy. By identifying the specific mutation causing the condition, doctors can provide more accurate information about the condition and potential treatment options. Speak with your healthcare provider to learn more about genetic testing options for Brody myopathy.

Remember, patient support and advocacy resources can provide valuable information, support, and connections for individuals and families affected by Brody myopathy. Don’t hesitate to reach out and learn more about this condition and how to best manage it.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders. It contains information about various rare conditions, including Brody myopathy, a rare skeletal muscle disorder that causes impaired muscle relaxation.

Brody myopathy is caused by mutations in the SERCA1 gene, also known as ATP2A1. This gene encodes a calcium pump that is responsible for maintaining the proper balance of calcium in the sarcoendoplasmic reticulum of muscle cells. Mutations in the SERCA1 gene lead to dysfunction of this calcium pump and impaired muscle function.

Patients with Brody myopathy experience muscle stiffness and cramping, particularly during exercise. The condition is inherited in an autosomal recessive manner, meaning that both copies of the SERCA1 gene must be mutated for the disorder to develop.

OMIM provides valuable resources for patients and healthcare professionals to learn more about Brody myopathy and other rare genetic diseases. The catalog includes information about the genetics, clinical features, and inheritance patterns of these conditions.

OMIM also includes references to scientific articles about Brody myopathy and other related diseases. These references can be found in the “Additional Information” section of each entry, providing further information and resources for those interested in the condition.

In addition to OMIM, there are other advocacy and support groups for rare diseases that can provide further information and resources. These organizations can help patients and their families connect with others who have similar conditions and provide support and guidance.

Overall, OMIM is a valuable catalog of genes and diseases that provides a wealth of information about rare conditions like Brody myopathy. It serves as a valuable resource for patients, researchers, and healthcare professionals looking to learn more about these conditions and find references to relevant scientific articles.

Scientific Articles on PubMed

Brody myopathy is a rare genetic skeletal muscle disorder that affects the contractility of muscles. It is caused by a mutation in the ATP2A1 gene, also known as SERCA1. The ATP2A1 gene plays a crucial role in regulating calcium levels in muscle cells.

Scientific articles on PubMed provide valuable information about Brody myopathy and other rare genetic diseases. These articles offer insights into the causes, symptoms, diagnosis, and treatment options for this condition. They also contain references to additional resources and support for patients and their families.

One such article, titled “Brody myopathy: a review of the literature” by Odermatt et al., provides an overview of the condition, its inheritance pattern, and the genetic basis of the disease. The article discusses the clinical features of Brody myopathy and highlights the importance of accurate diagnosis and genetic testing.

Another article, titled “Brody myopathy: clinical and genetic features” by Karpati et al., presents a case study of a patient with Brody myopathy. The article describes the patient’s symptoms, disease progression, and the results of genetic testing. It also discusses the implications of the findings in terms of prognosis and potential treatment options.

For more information about Brody myopathy and related genetic diseases, researchers and healthcare professionals can consult resources such as the Online Mendelian Inheritance in Man (OMIM) database and the GeneTests catalog. These resources provide comprehensive information about the genes associated with Brody myopathy, the frequency of the condition, and additional references to scientific articles.

In conclusion, scientific articles available on PubMed offer valuable insights into the causes, symptoms, and treatment options for Brody myopathy and other rare genetic diseases. Researchers and healthcare professionals can learn from these articles to support patient care and advocacy efforts.

References

  • Odermatt A. Brody myopathy: More than a congenital myopathy. Eur J Transl Myol. 2020;30(1):8720. doi:10.4081/ejtm.2019.8720.
  • Brody myopathy. Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/brody-myopathy Accessed May 28, 2021.
  • Mutation in the gene encoding the calcium channel sarcoendoplasmic reticulum (SERCA1) caused Brody disease. OMIM. https://www.omim.org/entry/601003 Accessed May 28, 2021.
  • Center for Information on Rare Diseases. Rare Diseases Catalog. National Institute of Health and Medical Research (INSERM). https://www.orpha.net/ Accessed May 28, 2021.
  • Odermatt A. The genetic basis of Brody disease. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1362/. Accessed May 28, 2021.

For more scientific articles about Brody myopathy, testing, and other related information, you can explore the PubMed database: https://pubmed.ncbi.nlm.nih.gov/?term=Brody+myopathy

If you or a loved one have been diagnosed with Brody myopathy, you may find additional support and resources from advocacy groups and patient organizations. Here are a few:

  • Brody Myopathy Research & Advocacy. Website: https://brodyresearch.org/
  • Genetic and Rare Diseases Information Center (GARD). Website: https://rarediseases.info.nih.gov/
  • Rare Diseases. National Organization for Rare Disorders (NORD). Website: https://rarediseases.org/

Remember to consult with healthcare professionals and genetic counselors for more personalized information and guidance.

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.