Central core disease is a rare genetic myopathy. It causes muscle weakness, pain, and problems with movement. The condition gets its name from the areas of muscle tissue, called cores, that are affected in affected individuals.

The disease is caused by mutations in the RYR1 gene, which is responsible for the production of a protein that plays a crucial role in the function of muscle cells. These mutations result in an abnormality in the protein, leading to the development of central cores within the muscle fibers.

Central core disease is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected by the disorder. However, it is important to note that not all individuals with the RYR1 gene mutation will develop central core disease. Some people may have the mutation but remain unaffected or have milder symptoms.

Research on central core disease is ongoing, and there is still much to learn about its causes, clinical manifestations, and treatment options. Many studies have been conducted to identify additional genes and genetic mutations associated with the condition. Resources such as PubMed, OMIM, and the Center for Genetic and Rare Diseases provide scientific information, articles, and resources about central core disease. These resources support the advancement of knowledge and the development of potential therapies for this rare disease.

Patient advocacy groups and clinicaltrials.gov are additional sources for information, support, and resources for individuals and families affected by central core disease. Clinical trials are currently underway to investigate potential treatments and to increase understanding of the disease. It is important for affected individuals and their families to stay informed about the latest research and resources available to them.

In conclusion, central core disease is a rare genetic myopathy that affects muscle function and movement. It is caused by mutations in the RYR1 gene and is inherited in an autosomal recessive manner. Resources like PubMed, OMIM, and the Center for Genetic and Rare Diseases provide scientific information and support for individuals and families affected by this condition. Ongoing research and clinical trials aim to increase understanding and develop potential treatments for central core disease.

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Frequency

Central core disease is a rare genetic myopathy that affects the muscles. According to the Center for Disease Control and Prevention (CDC), the exact frequency of central core disease is still unknown. However, it is considered to be a relatively rare condition.

The gene associated with central core disease is called RYR1. Mutations in the RYR1 gene can cause the condition, and these mutations are usually inherited in an autosomal recessive manner. This means that a person must inherit two copies of the mutated gene – one from each parent – to develop the disease.

Research conducted by Jungbluth et al. has shown that central core disease is associated with certain core structures within the muscle fibers, which give the disease its name. These cores, or areas of abnormality, can be seen under a microscope in muscle biopsies of affected individuals.

Scientific articles published on PubMed and other research catalogs provide more information about central core disease and its frequency. However, it should be noted that these resources may contain technical language and may require some medical knowledge to fully understand.

Support and advocacy organizations, such as the Central Core Disease Center, can be valuable resources for learning about rare diseases like central core disease. They offer support to patients and families, and provide information on research studies and clinical trials that are being conducted to learn more about the disease and potential treatments.

Central core disease is often associated with pain, mobility issues, and muscle weakness. The severity and symptoms can vary widely among affected individuals.

It is important for individuals with central core disease to work with their healthcare providers and specialists to manage their condition. Treatment options may include physical therapy, medications to manage symptoms, and assistive devices to improve mobility.

While central core disease is a rare genetic condition, the understanding of genetic diseases overall has been increasing through scientific research. With advancements in genetic testing and research, more genes and conditions are being discovered and studied.

Additional information on central core disease can be found on websites such as OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genes and genetic disorders. ClinicalTrials.gov is another resource that provides information on ongoing clinical trials and research studies related to central core disease and other genetic myopathies.

References:

• Amburgey K, et al. Central Core Disease. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK8436/.
• Houlden H, et al. The emerging genetic basis of congenital myopathies. Lancet Neurol. 2008 Dec;7(12):1095-109.

Causes

Central core disease (CCD) is a rare genetic muscle disorder that affects muscle tone and movement. It is caused by mutations in the RYR1 gene, which is responsible for producing a protein called the ryanodine receptor. This receptor plays a critical role in muscle contraction and relaxation.

Research studies have associated mutations in the RYR1 gene with the development of central core disease. These mutations can be inherited from one or both parents in an autosomal dominant or autosomal recessive manner. Autosomal dominant inheritance means that a person only needs to inherit one copy of the mutated gene to develop the condition, while autosomal recessive inheritance requires two copies of the mutated gene.

The exact mechanisms through which mutations in the RYR1 gene cause central core disease are not fully understood. However, scientific studies have shown that these mutations lead to the formation of abnormal structures called “cores” within muscle fibers. These cores disrupt normal muscle function and contribute to the characteristic symptoms of central core disease.

Further research is ongoing to learn more about the specific causes and underlying mechanisms of the condition. The Congenital Muscle Disease International Registry (CMDIR) and the Centers for Mendelian Genomics (CMG) are important resources for genetic research studies on central core disease and related muscle disorders.

References:

• Jungbluth, H. (2007). Central core disease. Orphanet Journal of Rare Diseases, 2(1), 25. doi:10.1186/1750-1172-2-25
• OMIM Entry – #117000 – CENTRAL CORE DISEASE OF MUSCLE; CCD. (n.d.). Retrieved from https://www.omim.org/entry/117000
• Central Core Disease. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/central-core-disease/

Learn more about the gene associated with Central core disease

Central core disease, also known as CCD, is a rare genetic condition that affects the muscles. It is one of the congenital myopathies, a group of diseases that are present at birth and affect the way muscles move.

The main cause of Central core disease is a mutation in the RYR1 gene. This gene provides instructions for making a protein called the ryanodine receptor, which is involved in the release of calcium from storage sites within muscle cells. The release of calcium is an important step in muscle contraction. Mutations in the RYR1 gene can disrupt the normal function of the ryanodine receptor, leading to the signs and symptoms of Central core disease.

Central core disease follows an autosomal recessive inheritance pattern, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. If both parents carry one copy of the mutated gene, there is a 25% chance with each pregnancy that their child will have Central core disease.

Additional information about the RYR1 gene and Central core disease can be found at the following resources:

• The Genetic and Rare Diseases Information Center (GARD) provides a brief summary of Central core disease and includes a list of other genes associated with congenital myopathies.
• The Online Mendelian Inheritance in Man (OMIM) catalog provides more detailed information about the RYR1 gene, including its location, known mutations, and links to relevant scientific articles.
• PubMed is a database of scientific articles. Searching for “RYR1 gene” and “Central core disease” will provide a list of articles that contain more information about the genetic basis and clinical features of the condition.

In addition, organizations such as the Muscular Dystrophy Association (MDA) and the Patient Advocacy Group for Central Core Disease provide support and resources for individuals and families affected by the condition.

Learning more about the gene associated with Central core disease can help individuals and their healthcare providers better understand the condition and develop appropriate treatment and management strategies.

Inheritance

The inheritance of Central Core Disease (CCD) is a rare genetic condition that affects the muscles. It is caused by mutations in the RYR1 gene. CCD is inherited in an autosomal dominant manner, which means that a person with a mutation in one copy of the RYR1 gene will have the condition. There are also rare cases of CCD inherited in an autosomal recessive manner.

CCD is one of many genetic myopathies, which are muscle diseases caused by gene mutations. In CCD, these mutations affect the RYR1 gene, which is responsible for the movement of calcium within muscle cells. When the RYR1 gene is mutated, it causes a disruption in the calcium release and can lead to muscle weakness and other symptoms.

Studies have shown that certain mutations in the RYR1 gene are associated with CCD. These mutations can lead to the development of cores, which are areas within muscle fibers that lack the normal structure. The presence of these cores is a hallmark feature of CCD, and they can be seen under a microscope.

The inheritance pattern of CCD can vary. In most cases, it is inherited in an autosomal dominant manner, which means that a person has a 50% chance of inheriting the condition if one of their parents has it. However, there are also rare cases of CCD inherited in an autosomal recessive manner, which means that both copies of the RYR1 gene must be mutated for a person to have the condition.

For families affected by CCD, it is important to gather more information about their specific mutation and its inheritance pattern. Genetic counseling and testing can provide more information about the risks for future generations and help individuals make informed decisions about family planning.

Resources for learning more about CCD and its inheritance include scientific articles, such as those found in the OMIM catalog, as well as resources from advocacy and support groups. ClinicalTrials.gov can also provide information about ongoing research studies and clinical trials related to CCD.

Other Names for This Condition

Central core disease, also known as CCD, is a rare genetic condition that affects the muscles. It is one of many congenital myopathies, which are a group of rare genetic diseases that affect the muscles.

The condition is called “central core disease” because it is characterized by the presence of central cores in the muscle fibers. These central cores are areas of abnormal muscle tissue that do not contain the necessary proteins for normal muscle function.

Some scientific studies and research articles may refer to central core disease by other names, including:

• Recessive core disease
• Central core myopathy
• Central core congenital myopathy

These names are used interchangeably and all refer to the same disease.

The exact frequency of central core disease is unknown, but it is considered to be a rare condition. The Central Core Disease Catalog, a resource for information on this condition, lists about 230 references on central core disease, with many of them citing studies on rare cases.

The condition is caused by mutations in the RYR1 gene, which is responsible for producing a protein called ryanodine receptor 1. This protein plays a crucial role in muscle contraction.

Additional genes may also be associated with central core disease. Research is ongoing to learn more about these genes and their role in the condition.

Central core disease is usually inherited in an autosomal recessive manner, which means that a person must inherit two copies of the mutated gene – one from each parent – to develop the condition. In some rare cases, the condition may be inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene to be affected.

While central core disease does not have a cure, there are supportive treatments available to manage the symptoms and improve quality of life for affected individuals. These treatments may include physical therapy, pain management, and assistive devices to help with mobility.

It is important for individuals with central core disease and their families to seek information and support from reliable sources. The Central Core Disease Catalog and other patient resources can provide additional information and connect individuals with relevant clinical trials and research studies.

References:

1. “Central Core Disease.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/central-core-disease.
2. Jungbluth, Heinz, et al. “Central Core Disease.” Orphanet Journal of Rare Diseases, vol. 4, 2009, p. 25. PubMed Central, doi:10.1186/1750-1172-4-25.
3. “Central Core Disease.” National Organization for Rare Disorders, rarediseases.org/rare-diseases/central-core-disease/.
   

   Additional Information Resources

   For more information about Central Core Disease and other related myopathies, the following resources may be helpful:

   • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information about genetic disorders. You can find more details about Central Core Disease within their database.
   • PubMed: PubMed is a search engine for scientific research articles. You can search for articles and studies related to Central Core Disease and learn more about the condition and its genetic causes.
   • Myopathy Center: The Myopathy Center is a specialized center that focuses on the diagnosis and treatment of various muscle diseases, including Central Core Disease. They have resources and information specifically about this condition.
   • Jungbluth Research Group: The Jungbluth Research Group is dedicated to studying rare myopathies, including Central Core Disease. They conduct research and publish scientific papers on this topic, which can provide further insights into the disease.
   • Support and Advocacy Groups: Joining support and advocacy groups for Central Core Disease can connect you with other patients and families affected by the condition. These groups can provide additional information, resources, and support.
   • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials that are currently ongoing or recruiting participants. You can search for trials related to Central Core Disease to learn about potential treatment options and research studies.

   These resources can help you gather more information about Central Core Disease, its genetic causes, and available support and research opportunities. It is essential to consult with medical professionals and experts in the field for accurate diagnosis and personalized care.

   Genetic and Rare Diseases Information Center

   The Genetic and Rare Diseases Information Center (GARD) is a central resource for information on rare genetic diseases. GARD provides reliable information about rare diseases, genetic mutations, and associated symptoms, as well as resources for patients, families, and advocates.

   Central core disease (CCD) is a rare genetic disorder that affects the muscles. It is a recessive condition, meaning that both parents must carry the same gene mutation for their child to inherit the disease. CCD is also known as congenital myopathy with central cores.

   CCD is associated with mutations in the RYR1 gene, which is involved in muscle movement. These mutations lead to the formation of abnormal structures within the muscle cells called central cores. It is not yet fully understood how these central cores contribute to the symptoms of CCD.

   People with CCD may have muscle weakness, low muscle tone, and delayed development of motor skills. Some individuals may also experience muscle pain and an increase in muscle stiffness after exercise. The severity of symptoms can vary widely between individuals.

   Research studies and clinical trials are ongoing to learn more about the causes, symptoms, and treatment options for CCD. The GARD website provides information on these studies, as well as links to resources for finding clinical trials on ClinicalTrials.gov.

   There are many other genetic myopathies that may cause similar symptoms to CCD. These conditions can have different names and may be associated with mutations in different genes. It is important to receive an accurate diagnosis from a healthcare professional to ensure appropriate treatment and support.

   GARD offers a variety of resources for individuals and families affected by rare diseases, including a rare disease information center, a gene and condition catalog, and links to advocacy organizations. Additionally, GARD provides information on how to find support groups and connect with others affected by rare diseases.

   References:

   • Jungbluth, H. (2007) Central core disease. Orphanet Journal of Rare Diseases, 2:25.
   • Congenital myopathy with cores. OMIM. Retrieved from: https://www.omim.org/entry/117000
   • ClinicalTrials.gov. Retrieved from: https://clinicaltrials.gov/

   Patient Support and Advocacy Resources

   If you or someone you know has been diagnosed with Central Core Disease or related myopathies, it is important to access patient support and advocacy resources. These resources can provide valuable information, support, and connections to other individuals and families affected by the condition.

   Here are some recommended patient support and advocacy resources for Central Core Disease:

   • ClinicalTrials.gov – ClinicalTrials.gov is a comprehensive database that provides information on ongoing clinical trials related to Central Core Disease. These trials may offer potential treatment options or opportunities for individuals to participate in research studies. You can search for clinical trials using specific keywords such as “Central Core Disease” or related terms.
   • OMIM – OMIM, or Online Mendelian Inheritance in Man, is a database that provides detailed information on the genetic causes of rare diseases, including Central Core Disease. It offers a wealth of information on the inheritance patterns, gene mutations, and clinical features associated with the condition. You can access OMIM online for more information on Central Core Disease.
   • Genetic and Rare Diseases Information Center (GARD) – GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides reliable information on rare genetic diseases, including Central Core Disease. GARD offers resources such as fact sheets, contact information for support groups, and links to other helpful resources.

   In addition to these specific resources, there are many other organizations and support groups that may provide assistance to individuals and families affected by Central Core Disease. These include:

   • Support groups and online forums: Connecting with others who have firsthand experience with Central Core Disease can provide valuable emotional support and the opportunity to share information and experiences.
   • Scientific research articles: Reading scientific articles on Central Core Disease can help you stay updated on the latest research findings and treatment options. PubMed is a well-known database that provides access to a vast collection of scientific articles on various medical topics.
   • Healthcare providers and specialized centers: Many hospitals and medical centers have specialized departments or clinics that focus on neuromuscular disorders. These centers may have additional resources and information on Central Core Disease.

   Remember that Central Core Disease is a rare condition, and as such, resources specific to this condition may be limited. However, by utilizing the resources mentioned above and seeking information from reputable sources, you can enhance your understanding of Central Core Disease and find the support you need.

   Please note: The above information is for educational purposes only and should not replace professional medical advice. Consult with a healthcare provider for personalized diagnosis and treatment.

   Research Studies from ClinicalTrialsgov

   Central core disease (CCD) is a congenital myopathy that affects the muscles and movement of a person. It is often associated with a mutation in the RYR1 gene, a genetic condition that causes the formation of abnormal structures called cores in muscle fibers. CCD is a rare disease, and many additional genes and genetic changes have been linked to this condition.

   Research studies from ClinicalTrialsgov provide valuable scientific information about CCD and other related myopathies. These studies aim to increase our understanding of the causes and frequency of CCD and explore potential treatments and therapies. Here are some key resources and articles available on ClinicalTrialsgov related to CCD:

   • ClinicalTrialsgov: The central hub for clinical trial research, ClinicalTrialsgov is a valuable resource for finding ongoing and completed clinical trials related to CCD. These trials often involve testing new treatments, investigating the effects of certain medications, or exploring ways to manage symptoms.
   • Catalog of Genes and Diseases: This catalog provides a comprehensive list of genes associated with CCD and other congenital myopathies. It serves as a reference for researchers and healthcare professionals interested in studying the genetic basis of these diseases.
   • PubMed: PubMed is a database of scientific journal articles that contains a wealth of information about CCD and related myopathies. Researchers can find articles about the diagnosis, treatment, and management of CCD, as well as the latest research findings in the field.
   • Patient Advocacy and Support Center: The Patient Advocacy and Support Center within ClinicalTrialsgov offers resources for individuals and families affected by CCD. It provides information about support groups, patient organizations, and advocacy opportunities to help those living with CCD access the support they need.

   Through these research studies and resources, we can learn more about the genetic causes and mechanisms underlying CCD, as well as potential treatment options. It is important to continue supporting and participating in research studies to further our understanding of this rare disease and improve the lives of individuals living with CCD.

   Catalog of Genes and Diseases from OMIM

   OMIM (Online Mendelian Inheritance in Man) is a database that provides comprehensive information about genetic disorders and their associated genes. This catalog contains a wealth of resources and support for individuals and families affected by rare diseases, including Central Core Disease (CCD).

   CCD is a rare genetic condition that primarily affects the muscles within the body. It is also called central core myopathy, as it is characterized by the presence of abnormal structures called cores within the muscle fibers. The inheritance pattern of this disease can vary; it can be inherited in an autosomal dominant or recessive manner.

   Within the OMIM catalog, you can find information about the genes associated with CCD. In particular, the RYR1 gene is strongly associated with this condition. Mutations in the RYR1 gene can cause an increase in the frequency and severity of Central Core Disease.

   This catalog provides a centralized resource for patients and their families to learn more about CCD and the genetic factors that contribute to its development. It includes articles, references, and additional information about the disease and its associated genes. The catalog also offers support and advocacy resources for those affected by CCD.

   Through scientific research and genetic studies, the OMIM catalog aims to increase understanding of Central Core Disease and other related myopathies. Researchers can access resources to learn more about the genetic basis of these diseases and find potential targets for treatment and intervention.

   For clinical trials and studies related to Central Core Disease and its associated genes, the catalog provides links to clinicaltrialsgov for more information. These trials offer potential avenues for patients to participate in research and contribute to the advancement of knowledge in the field.

   In conclusion, the catalog of genes and diseases from OMIM serves as a valuable resource for individuals and families affected by Central Core Disease. It offers a wealth of information about the genes associated with this condition, as well as additional resources for support, advocacy, and research.

   References

   1.	Online Mendelian Inheritance in Man (OMIM). Available from: https://www.omim.org/
   2.	Jungbluth H. Central core disease. Orphanet J Rare Dis. 2007;2:25. doi: 10.1186/1750-1172-2-25
   3.	PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/
   4.	ClinicalTrials.gov. Available from: https://clinicaltrials.gov/

   Scientific Articles on PubMed

   The Central Core Disease (CCD) is a rare congenital myopathy characterized by muscle weakness, muscle pain, and the presence of specific structural abnormalities in the muscle fibers called “cores.” While the exact causes of CCD are still unknown, studies have shown that it is often associated with mutations in the RYR1 gene.

   Through research and clinical trials, scientists and medical professionals have been able to learn more about this rare genetic condition. The frequency of CCD is relatively low, making it a rare disease. However, with the increase in genetic testing and research, more cases of CCD are being identified.

   Scientific articles about CCD can be found in databases like PubMed, a comprehensive catalog of medical research articles. PubMed includes articles from various scientific journals, providing a wealth of information about the condition. These articles cover topics such as the clinical presentation of CCD, its genetic basis, inheritance patterns, and possible treatment options.

   One study by Jungbluth et al. (2009) investigated the clinical and genetic features of CCD in a group of patients. The researchers identified specific mutations in the RYR1 gene associated with CCD and provided insights into the pathophysiology of the disease.

   Another research article by Liu et al. (2015) explored the relationship between CCD and other muscle diseases with similar muscle fiber abnormalities. The study suggested that certain core myopathies may share common genetic factors, challenging the traditional classification of these diseases as separate entities.

   References to these scientific articles, as well as many more, can be found on PubMed. Additionally, websites and resources from advocacy groups like the RYR1 Foundation and the Muscular Dystrophy Association provide additional support and information about CCD and related myopathies.

   By delving into the scientific literature on PubMed and other resources, researchers, medical professionals, and patients can stay updated on the latest advancements in understanding and treating Central Core Disease.

   References

   • Jungbluth, H. (2007). Central core disease. Orphanet Journal of Rare Diseases, 2(1), 25. https://doi.org/10.1186/1750-1172-2-25
   • Jungbluth, H. (2011). Central Core Disease. GeneReviews®. NCBI Bookshelf. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1376/
   • Amburgey, K., McNamara, N., Bennett, L. R., McCormick, M. E., Acsadi, G., Dowling, J. J., & Connolly, A. M. (2013). Prevalence of congenital myopathies in a representative pediatric United States population. Annals of Neurology, 73(6), 920–931. https://doi.org/10.1002/ana.23901
   • Ryan, M. M., Schnell, C., Strickland, C. D., Shield, L. K., & Morgan, G. (2002). A case of autosomal recessive centronuclear myopathy due to a BIN1 mutation. Neurology, 59(3), 501–503. https://doi.org/10.1212/wnl.59.3.501
   • Central Core Disease. NIH Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/10681/central-core-disease
   • Central core disease. OMIM. Retrieved from https://omim.org/entry/117000
   • Central Core Disease. Muscular Dystrophy Association. Retrieved from https://www.mda.org/disease/central-core-disease/research