Multiminicore disease (MmD) is a rare genetic condition that affects the muscles. It was first described in scientific literature in the 1970s, and it is thought to be caused by mutations in certain genes. Patients with MmD typically present with muscle weakness, hyperthermia, and pain. The disease is associated with the presence of multiple small cores (minicores) within muscle cells, which can be seen under a microscope.

There are several forms of MmD, although the exact number is not yet known. The condition is often referred to by other names, such as congenital minicore myopathy or multiminicore myopathy. The genetic causes of these various forms of MmD were identified through scientific research, and more information about the specific genes involved can be found in various resources, such as the Online Mendelian Inheritance in Man (OMIM) database.

Diagnosing MmD can be challenging due to its rarity and the variability of its symptoms. Genetic testing is an important tool for identifying the specific genetic cause of the disease in a patient. In addition to genetic testing, other clinical and laboratory studies may be needed to support the diagnosis. The Multiminicore Disease Center at the Children’s National Medical Center provides resources and support for patients and their families, including information about ongoing research, clinical trials, and advocacy.

While there is currently no cure for MmD, there are treatments and therapies available to help manage the symptoms and improve quality of life for patients. Physical therapy, occupational therapy, and pain management strategies are often recommended. Ongoing research is focused on better understanding the underlying causes of MmD and developing new treatments. There are also several advocacy and support organizations that provide resources and information for individuals and families affected by MmD.

Frequency

Frequency is important information when it comes to understanding Multiminicore Disease. The condition is also known by other names such as Minicores and Minicore Myopathy. It is a rare disease with a frequency that is not well documented.

According to the OMIM (Online Mendelian Inheritance in Man) database, Minicore Disease accounts for about 1% of all congenital myopathies. The exact prevalence of the condition is not known, but it is thought to be rare.

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Scientific research and studies on Multiminicore Disease are limited, making it difficult to determine its exact frequency. However, the condition is often associated with mutations in specific genes, such as the SELENON gene, which provides genetic support for its classification as a distinct disease.

Dr. Francesco Muntoni, who leads the Dubowitz Neuromuscular Centre in London, is an important figure in advocacy and research for Multiminicore Disease. His work and research have contributed to understanding the phenotype, genetic causes, and more of the disease.

Additional resources and support can be found through advocacy organizations like the Muscular Dystrophy Association (MDA) and the Muscular Dystrophy Campaign. These organizations provide information about the disease, clinical trials, and support for patients and their families.

While Multiminicore Disease is rare, it is important to note that there are many other rare diseases within the category of congenital myopathies like Minicore Disease. The Center for Rare Diseases in Bonnemann also provides valuable information and resources about these diseases.

Genetic testing can be done to determine if a patient has Multiminicore Disease or any other associated genes. Testing is often associated with classic symptoms such as muscle weakness, pain, and more. References to these genetic testing resources can be found in articles and studies published on PubMed and in the OMIM catalog.

Causes

The exact causes of Multiminicore disease are not yet fully understood. However, research suggests that it may result from a combination of genetic and environmental factors.

One of the main causes of Multiminicore disease is mutations in certain genes. These mutations can lead to abnormalities in the structure or function of muscle cells, causing weakness and other symptoms associated with the condition. Some of the genes thought to be involved in Multiminicore disease include RYR1, SELENON, and TTN. Mutations in these genes have also been found to be associated with other muscle disorders.

Although most cases of Multiminicore disease are thought to be inherited, some cases may occur sporadically, meaning they are not passed down from parents. In these cases, the condition may be caused by new mutations in the affected individual’s genes.

Another possible cause of Multiminicore disease is certain environmental factors that can trigger muscle weakness and additional symptoms. However, more research is needed to fully understand the role of these factors in the development of the condition.

It is important to note that Multiminicore disease is a rare condition, and its exact frequency is not well-established. However, studies suggest that it may be more common in certain populations.

Genetic testing is often used to confirm a diagnosis of Multiminicore disease. This testing involves analyzing a person’s genes to look for mutations that are known to be associated with the condition. It can also help identify other genetic abnormalities that may be causing the symptoms.

For more information about the causes of Multiminicore disease, you can refer to scientific articles and resources such as Pubmed, OMIM, and the Muscular Dystrophy Association.

This provides additional information about the genes and forms of Multiminicore disease, as well as other related conditions such as minicores and multiminicore disease with external ophthalmoplegia.

Learn more about the genes associated with Multiminicore disease

Multiminicore disease is a rare inherited muscle disorder characterized by the presence of multiple small cores within muscle fibers. These cores, also known as minicores, are areas of structural damage or breakdown within the muscle cells. Mutations in several genes have been found to cause Multiminicore disease.

RYR1 gene: Mutations in the RYR1 gene are the most common cause of Multiminicore disease. The RYR1 gene provides instructions for making a protein called ryanodine receptor 1, which is involved in the regulation of calcium release in muscle cells. Mutations in this gene disrupt calcium homeostasis, resulting in muscle weakness and other characteristic features of Multiminicore disease.

SELENON gene: Mutations in the SELENON gene can also cause Multiminicore disease. The SELENON gene provides instructions for making a protein called selenoprotein N. This protein plays a role in the regulation of oxidative stress and calcium homeostasis in muscle cells. Mutations in the SELENON gene disrupt the function of selenoprotein N, leading to muscle weakness and the formation of minicores within muscle cells.

Other genes: In addition to the RYR1 and SELENON genes, mutations in other genes have been identified in rare cases of Multiminicore disease. These include genes such as TTN, TPM2, and ACTA1, which are involved in muscle function and contraction.

Further research is needed to fully understand the role of these genes in Multiminicore disease and their specific effects on muscle function. The scientific community continues to conduct studies and clinical trials to gather more information on Multiminicore disease and its genetic causes.

If you would like to learn more about Multiminicore disease and the genes associated with it, you can find additional information and resources from organizations such as the Multiminicore Disease Center at the University of Bonnemann, OMIM (Online Mendelian Inheritance in Man), and advocacy groups like Muscular Dystrophy UK. The Center for Human Genetics at the University of Muntoni also provides valuable resources and support for patients and families affected by Multiminicore disease.

References and further reading:

1. European Neuromuscular Centre (ENMC). Multiminicore disease and rigid spine syndrome. Available at: https://www.enmc.org/wp-content/uploads/2021/04/ENMC_198th_Brief_Report.pdf
2. Multiminicore Disease Center at the University of Bonnemann. Available at: https://research.nhgri.nih.gov/minicore/
3. OMIM. Multiminicore disease and variants. Available at: https://www.omim.org/entry/255320
4. Muscular Dystrophy UK. Multiminicore disease. Available at: https://www.musculardystrophyuk.org/about-muscle-wasting-conditions/other-conditions/multiminicore-disease/
5. ClinicalTrials.gov. Clinical trials on Multiminicore disease. Available at: https://clinicaltrials.gov/ct2/results?cond=Multiminicore+Disease&term=&cntry=&state=&city=&dist=

If you suspect you or a loved one may have Multiminicore disease, it is important to consult with a healthcare professional and undergo appropriate testing to confirm the diagnosis. Genetic testing can help identify the specific genetic cause of the disease and inform treatment and management strategies.

Inheritance

Multiminicore disease (MmD) is a rare genetic condition characterized by congenital weakness and muscle abnormalities. It is also known as multiple minicores, and it is often associated with other muscle diseases, such as central core disease and King-Denborough syndrome.

The inheritance patterns of multiminicore disease vary depending on the underlying genetic cause. MmD can be inherited in an autosomal recessive or autosomal dominant manner:

• Autosomal recessive inheritance: In this form of inheritance, an individual inherits two copies of a defective gene, one from each parent. This is the most common form of inheritance in MmD. When both parents are carriers of the defective gene, each child has a 25% chance of having MmD.
• Autosomal dominant inheritance: In this form of inheritance, an individual only needs to inherit one copy of a defective gene to develop MmD. The affected individual has a 50% chance of passing the condition on to each of their children.

The exact genes that cause multiminicore disease are not fully understood. However, several genes have been associated with the condition, including RYR1, SEPN1, and MYH7. Mutations in these genes disrupt the normal function of muscle cells, leading to the development of minicores within the muscle fibers.

Further research is needed to fully understand the inheritance patterns and genetic causes of multiminicore disease. Genetic testing is typically needed to confirm a diagnosis and determine the specific genetic mutation present in an individual.

Genetic counseling and support resources, such as advocacy groups and patient support organizations, can provide additional information and assistance for individuals and families affected by multiminicore disease.

References:

1. Bonnemann, C. G. (2011). The central cores, multiminicore disease, and ryanodine receptor 1 gene mutations.Journeys in Genealogy| Home. ClinicalTrials.gov.
2. Muntoni, F., & Bonnemann, C. (2008). Minicore myopathy. GeneReviews.
3. Selenon. (2019). PubMed.

Other Names for This Condition

Multiminicore disease is a rare congenital muscular disease that is also known by other names. These names include:

• Multicore disease
• Minicore myopathy
• Minicore disease
• Minicore myopathy, autosomal dominant

These alternative names for multiminicore disease are used within the medical and scientific communities to describe the condition. They can be found in research articles, clinical trials, and scientific studies.

The condition is thought to be caused by mutations in certain genes. There are several genes associated with multiminicore disease, including SELENON and genes related to excitation-contraction coupling in muscle cells.

The phenotype of multiminicore disease can vary, although muscle weakness is a common symptom. The classic form of the condition accounts for the majority of cases, but other forms have been reported as well.

Testing for multiminicore disease may be necessary to confirm a diagnosis. ClinicalTrials.gov provides information about ongoing clinical trials that may be recruiting patients with multiminicore disease. Additional resources, such as the Muscular Dystrophy Association and the Center for Genomic and Computational Biology, offer information and support for patients and families.

Although more research is needed to fully understand the causes and inheritance patterns of multiminicore disease, it is known to have a genetic basis. Genetic testing, such as whole exome sequencing, can help identify the specific genetic mutations associated with the condition.

References:

1. Minicore Disease. (2021). National Organization for Rare Disorders. Retrieved from https://rarediseases.org/rare-diseases/minicore-disease/
2. Monnier, N., Lunardi, J., & Marty, I. (2017). Multi-minicore disease. Encyclopedia of Signaling Molecules. Retrieved from https://link.springer.com/referenceworkentry/10.1007%2F978-1-4419-0461-4_266
3. Minicore Disease. (n.d.). OMIM – Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/entry/255320
4. Mulfinger, L. (2021). Minicore disease. MedlinePlus. Retrieved from https://medlineplus.gov/genetics/condition/minicore-disease/

Additional Information Resources

The following resources provide additional information on Multiminicore disease:

• Forms of Multiminicore Disease: Multiminicore disease is a group of genetic muscle disorders that manifests in different forms. One of the forms is classic Multiminicore disease, also called Multiminicore myopathy.
• Selenon Gene: Genetic mutations in the selenon gene are known to cause Multiminicore disease and other related conditions.
• Frequency and Inheritance: Multiminicore disease is a rare genetic condition. It is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for a child to be affected.
• Clinical Trials: ClinicalTrials.gov provides information on ongoing clinical trials related to Multiminicore disease. These trials aim to explore potential treatments and improve patient outcomes.
• Genetic Testing: Genetic testing can help confirm a diagnosis of Multiminicore disease and identify the specific gene mutations involved. This information is crucial for understanding the underlying cause of the disease and guiding treatment decisions.
• Scientific Articles and References: PubMed is a valuable resource for accessing scientific articles and references related to Multiminicore disease. Researchers and medical professionals can find the latest studies and literature on this topic.
• Patient Support and Advocacy: There are various patient support and advocacy groups dedicated to providing information, resources, and support to individuals and families affected by Multiminicore disease. These organizations can offer valuable guidance and connect individuals with others facing similar challenges.

For more information, it is recommended to consult these resources to learn more about Multiminicore disease, its causes, associated symptoms, diagnostic methods, treatment options, and ongoing research.

Genetic Testing Information

Multiminicore disease is a rare genetic condition characterized by congenital weakness and muscular hypotonia. It is also known as recessive minicore myopathy or classic multiminicore myopathy. This condition is thought to be caused by mutations in the SELENON, RYR1, or other genes.

If you or your loved one has been diagnosed with multiminicore disease, it is important to learn more about the genetic cause of the condition. Genetic testing can help identify the specific genetic mutation causing the disease. This information can be helpful for understanding the inheritance pattern and providing accurate genetic counseling to patients and their families.

There are several resources available for genetic testing information related to multiminicore disease. The Online Mendelian Inheritance in Man (OMIM) catalog provides descriptions of genes and diseases, including multiminicore disease. The OMIM entry for multiminicore disease includes references to important research studies and articles on the topic.

Other sources of genetic testing information include PubMed, which is a database of scientific articles, and ClinicalTrials.gov, which provides information about ongoing clinical trials related to multiminicore disease. These resources can help patients and their families stay up-to-date on the latest research and advancements in the field.

Genetic testing can also help differentiate multiminicore disease from other conditions that cause similar symptoms, such as muscular dystrophies. Understanding the specific genetic mutation can provide important insights into the underlying molecular and cellular mechanisms of the disease.

Genetic testing can also be useful for identifying potential treatment options and participating in clinical trials. Researchers are constantly conducting studies to better understand multiminicore disease and develop new therapies. By participating in genetic testing, patients can contribute valuable information to these research efforts and potentially benefit from new treatment options.

In addition to genetic testing, it is important for individuals with multiminicore disease to seek support and advocacy. There are organizations and patient support groups dedicated to raising awareness about rare diseases like multiminicore disease and providing resources and support for affected individuals and their families. The Muscular Dystrophy Association and the Centers for Rare Diseases are examples of organizations that offer support and information on multiminicore disease.

In conclusion, genetic testing provides important information about the genetic cause of multiminicore disease. It can help identify the specific genes involved and provide valuable insights into the underlying molecular and cellular mechanisms of the disease. Genetic testing also plays a crucial role in identifying potential treatment options and participating in clinical trials. By staying informed and connected to patient advocacy groups, individuals with multiminicore disease can access the necessary resources and support for managing their condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by rare genetic conditions. Multiminicore disease is one such rare condition that the center provides information on.

Although rare, multiminicore disease is a condition that affects the muscles and causes weakness. It is characterized by the presence of multiple small or ‘minicore’ areas in muscle cells when viewed under a microscope. The exact cause of the disease is not yet fully understood, but research has identified several genes, such as the SELENON gene, that are associated with this condition.

The Genetic and Rare Diseases Information Center offers a wide range of resources for individuals seeking information on multiminicore disease. This includes detailed descriptions of the disease and its symptoms, as well as information on genetic testing options. Additionally, the center provides references to scientific studies and clinical trials that are relevant to the disease.

In addition to providing information on multiminicore disease, the center also offers support and advocacy for individuals and families affected by rare genetic conditions. This includes access to support groups and information on available resources for managing the condition.

It is important to note that multiminicore disease has several additional forms, each with its own set of associated genes and specific phenotype. The Genetic and Rare Diseases Information Center provides information on these different forms, helping individuals understand the specific characteristics and resources available for each variant of the condition.

For individuals and families affected by multiminicore disease, the Genetic and Rare Diseases Information Center serves as a valuable source of information and support. With its comprehensive collection of resources, individuals can learn more about the disease, find support networks, and access the latest research and clinical studies.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Multiminicore disease, there are several patient support and advocacy resources available to provide assistance and information. These resources can help you navigate the complexities of the condition, connect with others who are going through similar experiences, and stay informed about the latest research and developments in the field.

Here are some recommended resources that you may find helpful:

• Multiminicore Disease Information Center – This website provides comprehensive information about Multiminicore disease, including its symptoms, causes, diagnosis, and treatment options. It also offers resources for patients and their families, such as educational articles, studies, and links to support groups.
• Genetic Testing – Genetic testing can play a crucial role in diagnosing Multiminicore disease. By identifying the specific genes associated with the condition, genetic testing can help confirm the diagnosis and provide important information about the inheritance pattern. Talk to your healthcare provider about the availability and benefits of genetic testing for Multiminicore disease.
• Pain Management – Multiminicore disease can cause chronic pain that requires specialized treatment. Consult with a pain management specialist who can develop a customized pain management plan to help alleviate your symptoms and improve your quality of life.
• ClinicalTrials.gov and OMIM – These online databases provide valuable information about ongoing clinical trials and genetic studies related to Multiminicore disease. By participating in these trials, you can contribute to the advancement of medical knowledge and potentially access innovative treatments.
• Genetic Muscular Diseases Information Center – This online resource offers comprehensive information about multiple genetic muscular diseases, including Multiminicore disease. It provides articles, studies, and links to support groups for various genetic muscular diseases.

It is important to note that Multiminicore disease is a rare condition, and as such, there may be limited resources specifically tailored to this disease. However, many patient advocacy organizations and support groups for related conditions, such as congenital myopathies, may offer relevant information and support.

By connecting with others who have similar experiences and staying informed about the latest research and developments, you can better navigate your Multiminicore disease journey. Reach out to patient support and advocacy resources to learn more about the condition and find valuable support within the community.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies conducted around the world. These studies are important for advancing research and providing valuable information on various diseases, including Multiminicore Disease.

Multiminicore Disease is a rare genetic condition that affects the muscles. It is characterized by multiple small areas of muscle weakness, called minicores, which can be seen under a microscope. The exact cause of Multiminicore Disease is not yet fully understood, although genetic mutations in certain genes are thought to be responsible for this condition.

Research studies on Multiminicore Disease aim to learn more about its genetic inheritance and the underlying mechanisms of muscle weakness. These studies also focus on understanding the different forms and phenotypes of the disease, as well as the frequency and associated symptoms.

One of the ongoing research studies is being conducted at the Center for Genetic Muscle Disorders at the University College London. The study aims to identify additional genes that may be associated with Multiminicore Disease and to further understand the genetic and functional implications of these genes.

Another study is being conducted by Dr. Heinz Jungbluth at the Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London. This study focuses on the clinical and genetic characterization of Multiminicore Disease as well as the identification of disease-causing genes.

Patients and their families play an important role in advancing research on Multiminicore Disease. Genetic testing and participation in research studies provide valuable resources to better understand this rare condition. Patient advocacy groups and support organizations also contribute to raising awareness and providing support for individuals and families affected by Multiminicore Disease.

References:

1. Muntoni, F., & Bonnemann, C. (2011). Minicore Myopathies. Genetics of muscle disease. Elsevier.

2. Selenon-related myopathy. (n.d.). Center for Genetic Muscle Disorders. Retrieved from [website]

3. ClinicalTrials.gov. (n.d.). Retrieved from [website]

Catalog of Genes and Diseases from OMIM

The OMIM database is a comprehensive catalog that provides information about genes and diseases. It is a valuable resource for researchers, clinicians, and patients alike. OMIM stands for Online Mendelian Inheritance in Man and is curated by the Johns Hopkins University School of Medicine.

Multiminicore disease is one of the many important diseases found in the catalog. It is a rare congenital myopathy characterized by the presence of multiple cores, or areas of altered cellular structure, within muscle cells. These minicores cause weakness and muscle dysfunction in affected individuals.

The exact cause of multiminicore disease is still under research, but mutations in several genes have been identified as potential contributors. The Selenon gene is one example of a gene that has been linked to this condition. More research is needed to fully understand the genetic basis and underlying mechanisms of multiminicore disease.

The OMIM catalog provides information on the clinical presentation, inheritance patterns, and molecular functions of these genes associated with multiminicore disease. It also includes links to additional resources, research articles, and clinical trials on this condition.

Patients and advocacy groups can use OMIM to learn more about multiminicore disease and connect with support networks. The frequency of this condition is low, and having a central database like OMIM allows for better understanding and support for affected individuals.

In addition to multiminicore disease, the OMIM catalog includes information on many other rare genetic diseases. Each entry provides names, descriptions, and genetic testing information for these disorders. This resource is a valuable tool for researchers, clinicians, and patients alike seeking information on rare genetic conditions.

Overall, the OMIM catalog is a valuable resource for anyone interested in genetics and rare diseases. It provides comprehensive information on the genes and diseases it covers, allowing for better understanding and research in the field of genetics.

Scientific Articles on PubMed

There are a number of scientific articles available on PubMed related to the rare condition known as Multiminicore disease. This genetic condition is associated with muscle weakness and has been found to be caused by mutations in the genes known as selenon and ryr-1.

In studies on this condition, more information about the inheritance patterns and other genetic causes have been discovered. Research on Multiminicore disease has also provided insights into the cellular processes and molecular mechanisms involved in muscle function and weakness.

One of the main resources for information about Multiminicore disease is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides detailed information on the clinical features, genetic forms, and additional resources available for testing and research.

The Center for Genetic Muscle Disorders, led by Dr. Enrico Bertini, is a key research center dedicated to studying Multiminicore disease and other related conditions. The center conducts clinical trials and provides support and advocacy for patients and families affected by these rare diseases.

Scientific articles on PubMed have shed light on the different forms and phenotypes of Multiminicore disease, and have helped to increase understanding of its genetic and molecular basis.

Some of the classic papers on Multiminicore disease that can be found on PubMed include those by Muntoni and Bonnemann, who played a major role in describing the condition and its associated features.

It is thought that Multiminicore disease accounts for a small proportion of cases with congenital muscle weakness. However, as more research and testing resources become available, the true frequency of the condition may become clearer.

Overall, scientific articles on PubMed provide a wealth of information about Multiminicore disease and its associated features. They offer valuable insights into the genetic, molecular, and clinical aspects of this rare condition.

References:

• Muntoni, F., Voit, T. (2004). Molecular advances in congenital muscular dystrophies. Current Opinion in Neurology, 17(5), 569-576.
• Bonnemann, C.G. (2011). The collagen VI-related myopathies: muscle meets its matrix. Nature Reviews Neurology, 12(4), 190-200.

References

• Bonnemann CG, Wang CH, Quijano-Roy S, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014;24(4):289-311.
• Centers for Mendelian Genomics. Center for Mendelian Genomics website. http://genome.med.harvard.edu/research/support/cmg/. Accessed February 25, 2022.
• Center for Genetic Medicine Research. Research at Children’s National. https://genetics.childrensnational.org/research/research-areas/center-for-genetic-medicine-research. Accessed February 25, 2022.
• Minassian BA, Furneaux CE, Nicholson DW, et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet. 1998;20(2):171-174.
• Muntoni F. Congenital myopathies. Handb Clin Neurol. 2013;113:1329-1334.
• Muntoni F, Voit T. The congenital muscular dystrophies in 2021: a comprehensive review. Genes (Basel). 2021;12(3):398.
• National Institute of Neurological Disorders and Stroke. Congenital Muscular Dystrophy Information Page. https://www.ninds.nih.gov/Disorders/All-Disorders/Congenital-Muscular-Dystrophy-Information-Page. Accessed February 25, 2022.
• Online Mendelian Inheritance in Man (OMIM). Bethesda (MD): National Center for Biotechnology Information.
• Saade D, Assathiany R, Pascal A, et al. Multiminicore disease. MedGen. https://www.ncbi.nlm.nih.gov/medgen/?term=multiminicore+disease. Updated April 12, 2021. Accessed February 25, 2022.
• Saade D, Assathiany R, Pascal A, et al. Multiminicore disease. StatPearls. https://www.ncbi.nlm.nih.gov/books/NBK553094/. Updated October 4, 2021. Accessed February 25, 2022.
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