Inclusion body myopathy 2

Inclusion Body Myopathy 2 (IBM2) is a rare genetic muscle disorder characterized by distal weakness. It is caused by mutations in the GNE gene, also known as UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase. IBM2 belongs to a group of diseases called hereditary inclusion body myopathies (HIBM) that primarily affect the muscles, specifically the tibialis anterior muscles in the lower legs.

The clinical manifestations and inheritance patterns of IBM2 are not fully understood, and research is ongoing to better understand this condition. Studies have shown that IBM2 is associated with a decrease in GNE enzyme activity, which leads to abnormal protein accumulation in muscle cells. In addition to distal weakness, other symptoms of IBM2 may include centrally located muscle weakness and atrophy, difficulty swallowing, and respiratory muscle weakness.

Currently, there is no cure for IBM2, and treatment focuses on managing the symptoms. There is ongoing research and clinical trials exploring potential therapies for IBM2, aimed at increasing GNE enzyme activity and reducing protein accumulation. One such clinical trial can be found on ClinicalTrials.gov (NCT03929923).

For more information about IBM2 and other related conditions, the scientific community has published various articles and studies. PubMed, a database of scientific publications, provides a wealth of information on this topic. Additionally, resources such as the GENE Myopathy Patient Catalog and the Online Mendelian Inheritance in Man (OMIM) database offer gene-specific information and references related to IBM2 and other hereditary inclusion body myopathies.

Advocacy and support groups, such as the IBM2 Support and Advocacy Center, provide valuable resources and perspectives for individuals and families affected by IBM2. These groups offer information on clinical trials, research updates, and support for navigating this rare condition.

Frequency

Inclusion body myopathy 2 (IBM2) is a rare genetic condition that causes muscle weakness. The frequency of IBM2 is not well documented, but it is considered to be a rare disease.

According to the OMIM catalog, there have been several reported cases of IBM2. One study by Nonaka et al. (1998) reported on a Japanese patient with IBM2. They found that the patient had a mutated gene called DMRV (also known as MYH2) which is associated with IBM2. This suggests that IBM2 may be caused by mutations in the DMRV gene.

In addition to the study by Nonaka et al., there have been other articles and studies on IBM2. These include a study by Noguchi et al. (2005) which identified additional genes associated with IBM2, as well as a study by Sadeh et al. (2017) that provided more clinical information on the condition.

While the exact frequency of IBM2 is not known, it is considered to be a rare condition. More research and studies are needed to learn about the inheritance patterns and genetic causes of IBM2.

For additional information on IBM2, resources such as PubMed, Gene, and OMIM can be consulted. These databases provide a wealth of scientific articles and information on rare diseases like IBM2. Advocacy organizations and clinical trial registries such as ClinicalTrials.gov can also provide support and resources for patients and their families.

Causes

Inclusion body myopathy 2 (IBM2) is a rare genetic condition associated with mutations in the GNE gene. It is also known as Nonaka myopathy or hereditary inclusion body myopathy (HIBM). The GNE gene provides instructions for producing an enzyme called UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase. Mutations in this gene disrupt the function of the enzyme, leading to the development of IBM2.

IBM2 is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated GNE gene (one from each parent) to develop the condition. Individuals who inherit only one copy of the mutated gene are carriers and do not typically experience symptoms.

The exact frequency of IBM2 is unknown, but it is considered to be a rare condition. It has been reported in populations of Japanese, Iranian, and Jewish descent, among others.

Signs and symptoms of IBM2 typically appear in adulthood, usually between the ages of 20 and 40. The condition is characterized by progressive muscle weakness and atrophy, primarily affecting the muscles of the arms and legs. Weakness tends to be more prominent in the distal muscles, such as those in the hands and feet.

Currently, there is no cure for IBM2, but treatment focuses on managing symptoms and improving quality of life. Physical therapy and assistive devices may be recommended to help maintain mobility and independence.

Research studies and clinical trials are ongoing to further understand the causes and potential treatments for IBM2. The National Institutes of Health’s database for clinical trials (clinicaltrials.gov) provides information on current studies related to the condition.

For additional information about IBM2, resources such as PubMed, OMIM, and advocacy organizations like IBM Inclusion Body Myositis are valuable sources.

Nonaka, I., Sunohara, N., Ishiura, S., Satoyoshi, E. (1981). Familial distal myopathy with rimmed vacuoles and lamellar (myeloid) body formation. J Neurol, 224(3), 175-179.
Noguchi, S., Keira, Y., Murayama, K., et al. (2001). Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J Biol Chem, 276(1), 460-464.
Sadeh, M., Garg, A., Ghalamkarpour, A., et al. (2021). Inclusion body myopathy 2 advances in genetic and pathophysiological understanding. Acta Neurol Belg, 121(2), 297-309.

Learn more about the gene associated with Inclusion body myopathy 2

Inclusion body myopathy 2 (IBM2) is a rare genetic condition that affects muscle function. It is also known as distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (HIBM).

The gene associated with IBM2 is called GNE. Mutations in the GNE gene cause the symptoms of this condition. The GNE gene provides instructions for making an enzyme called UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. This enzyme is important for the production of sialic acid, which is a component of muscle and other tissues in the body.

People with IBM2 typically start experiencing weakness and muscle atrophy in the distal muscles, such as those in the feet and legs. The tibialis anterior muscle, which is responsible for lifting the front part of the foot, is often affected early in the disease. Other signs and symptoms may include difficulty walking, difficulty swallowing, and weakness in the hands and forearms.

IBM2 is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated GNE gene, one from each parent, to develop the condition.

Currently, there is no cure for IBM2. Treatment focuses on managing the symptoms and supporting the patient’s overall well-being. Genetic testing can be done to confirm the diagnosis and provide more information about the specific GNE gene mutations involved.

Additional resources and support for patients with IBM2 and their families can be found through advocacy organizations, such as the IBM2 Advocacy and Support Center. ClinicalTrials.gov is another useful resource for finding clinical trials and research studies on IBM2 and related conditions.

Scientific articles and research studies about IBM2 and the GNE gene can be found in scientific journals such as Acta Myol, Curr Opin Neurol, and Neurology. The OMIM (Online Mendelian Inheritance in Man) catalog and PubMed are also good sources for finding more information and references about IBM2.

Overall, the GNE gene plays a crucial role in the development and function of muscle tissues. Understanding the genetic basis of IBM2 and the GNE gene mutations is essential for further research and perspectives on this rare condition.

Inheritance

Inclusion body myopathy 2 (IBM2) is a rare genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. When both parents are carriers of the mutated gene, there is a 25% chance with each pregnancy that the child will inherit two copies and be affected by IBM2.

The gene associated with IBM2 is called the GNE gene, also known as UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. Mutations in this gene are responsible for the signs and symptoms of IBM2. The GNE gene provides instructions for producing an enzyme that is involved in the production of a sugar molecule called sialic acid. Mutations in the GNE gene lead to a decrease in the production of sialic acid, which is believed to contribute to the muscle weakness and atrophy seen in individuals with IBM2.

IBM2 typically presents with weakness and muscle wasting in the distal muscles of the lower legs, specifically the tibialis anterior muscle. This leads to difficulty walking, frequent falls, and a decreased ability to perform activities that require the use of the lower legs. The weakness in the lower legs often progresses over time, eventually leading to severe disability. However, the frequency and severity of symptoms can vary significantly among affected individuals.

There is currently no cure for IBM2, and treatment focuses on managing the symptoms and providing support to affected individuals. Physical therapy and assistive devices may be used to help maintain mobility and function. Speech therapy and respiratory support may also be necessary in some cases. Ongoing research is being conducted to better understand the causes of IBM2 and develop new treatment options.

Other Names for This Condition

Inclusion body myopathy 2 (IBM2) is also known by several other names, including:

Distal myopathy with rimmed vacuoles (DMRV)
Hereditary inclusion body myopathy 2 (HIBM2)
Nonaka myopathy
Welander distal myopathy

These additional names reflect different aspects of the condition and its characteristics.

IBM2 is a rare neuromuscular disorder that causes weakness in the muscles, particularly in the distal muscles of the limbs. It is typically inherited in an autosomal recessive manner, meaning that both copies of the mutated gene must be present for the condition to develop.

The mutated gene associated with IBM2 has been identified as GNE, which stands for glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase. Mutations in this gene lead to the development and progression of the condition.

ClinicalTrials.gov provides information about ongoing clinical trials for IBM2, offering potential opportunities for patients to participate in research and treatment.

More information about IBM2 can be found in scientific articles from reputable sources such as PubMed and the Genetics Home Reference.

In addition to research and clinical resources, advocacy and support organizations can provide valuable information and assistance for patients and their families seeking to learn more about this rare condition.

Table below lists some of the resources that provide further information and support for IBM2:

Resource	Description
Genetics Home Reference	A reliable resource providing in-depth information about genetic diseases and conditions, including IBM2
Online Mendelian Inheritance in Man (OMIM)	A comprehensive catalog of human genes and genetic disorders, including IBM2
Acta Myologica	A scientific journal publishing articles and studies related to myopathies, including IBM2
Current Opinion in Neurology	A peer-reviewed journal offering perspectives and reviews on current research and developments in neurology, including IBM2
Noguchi Medical Research Institute	A research center focused on studying muscle diseases, including IBM2
Sadeh Center for Research in HIBM2	A specialized center conducting research and providing resources and support for patients with IBM2

These resources can provide valuable information about the frequency, causes, signs, and inheritance of IBM2, as well as testing and clinical trial opportunities. They can also offer support and advocacy for patients and their families.

Additional Information Resources

For more information on Inclusion Body Myopathy 2 (IBM2), you can refer to the following resources:

PubMed: This database contains scientific articles and studies related to IBM2 and other related diseases. Searching for keywords like “Inclusion Body Myopathy 2” or “IBM2” can provide you with additional information and research.
OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the causes, inheritance patterns, and clinical features of various diseases, including IBM2.
GeneReviews: GeneReviews is a resource providing in-depth information about genetic conditions. The website offers clinical summaries, genetic testing information, and management guidelines for various disorders. Searching for “Inclusion Body Myopathy 2” or “IBM2” on GeneReviews can provide helpful insights.
ClinicalTrials.gov: This website provides information about ongoing and completed clinical trials. Searching for “Inclusion Body Myopathy 2” or “IBM2” in the search bar can give you details about any ongoing trials related to this condition.
Inclusion Body Myositis Foundation: This organization provides support, advocacy, and information for individuals affected by inclusion body myopathy and related conditions. Their website offers resources for patients, caregivers, and healthcare professionals, including educational materials and support groups.

These resources can help you learn more about Inclusion Body Myopathy 2, its signs and symptoms, genetic causes, and available research and support options.

Genetic Testing Information

Inclusion body myopathy 2 is a rare genetic condition caused by mutations in the gene called myol. These mutations lead to muscle weakness and atrophy, particularly in the distal muscles such as the tibialis anterior. If you or someone you know is experiencing signs of muscle weakness, it is important to learn more about this condition and consider genetic testing.

Genetic testing can provide valuable information about the specific gene mutations that are associated with inclusion body myopathy 2. This information can help with diagnosis, treatment decisions, and understanding the inheritance pattern of the condition. Genetic testing can be done through various methods, including blood or saliva samples.

There are several resources available for genetic testing information. The following websites can provide more detailed information about the genes, testing methods, and other related topics:

These resources provide up-to-date information on genetic testing, ongoing research studies, clinical trials, and related scientific articles. They can help you find more information about the specific genes associated with inclusion body myopathy 2, as well as any available clinical trials or studies that may be relevant to your situation.

In addition to genetic testing, it is important to seek support and additional resources for those affected by inclusion body myopathy 2. There are advocacy organizations and rare disease centers that offer information, support, and resources for patients and their families. These organizations can provide guidance on managing the condition, connecting with other individuals affected by inclusion body myopathy 2, and accessing specialized care.

Remember, having access to accurate and up-to-date genetic testing information can be empowering for individuals and their families. It can help with making informed decisions about medical management, treatment options, and genetic counseling. If you suspect inclusion body myopathy 2 or have concerns about your genetic health, consult with a healthcare professional to learn more about genetic testing and the potential implications for you and your family.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an invaluable resource for individuals and families affected by genetic and rare diseases. GARD provides information about these conditions, including Inclusion Body Myopathy 2 (IBM2), as well as resources for research, support, advocacy, and clinical trials.

Inclusion Body Myopathy 2, also known as Distal Myopathy with Rimmed Vacuoles (DMRV) or Hereditary Inclusion Body Myopathy (HIBM), is a rare genetic condition characterized by muscle weakness and muscle atrophy. It belongs to a group of rare genetic diseases called myopathies, which are characterized by muscle weakness and are associated with mutations in specific genes.

Research studies have identified specific genes associated with Inclusion Body Myopathy 2, including the GNE gene. When these genes are mutated, they can cause the muscle weakness and other signs and symptoms observed in individuals with this condition.

The GARD website provides access to a wealth of information about the causes, symptoms, frequency, inheritance patterns, and treatment options for Inclusion Body Myopathy 2. There are also links to scientific articles and other resources, such as PubMed, OMIM, and the Genetic Testing Registry, for individuals looking to learn more about this rare condition.

In addition, the GARD website provides links to clinicaltrials.gov, where individuals can find information about ongoing research studies and clinical trials for Inclusion Body Myopathy 2. Participating in a clinical trial can provide patients and their families with access to potentially beneficial treatments and further contribute to our understanding of this condition.

Furthermore, the GARD website offers perspectives and additional resources for individuals and families affected by Inclusion Body Myopathy 2. These resources include patient support groups, advocacy organizations, and articles with information on living with this rare genetic disease.

Overall, the Genetic and Rare Diseases Information Center is an excellent resource for individuals seeking information and support regarding Inclusion Body Myopathy 2 and other rare genetic diseases. It provides a comprehensive collection of resources, research articles, and clinical trial information to help individuals and their families better understand and manage this condition.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Inclusion Body Myopathy 2 (IBM2), it is important to know that you are not alone. There are several patient support and advocacy resources available to provide information, support, and guidance throughout your journey. Below is a list of some resources that you may find helpful:

Noguchi Memorial Institute for Medical Research (NIMR): The NIMR is dedicated to the research and treatment of genetic diseases, including IBM2. They provide valuable information and resources for patients and their families.
Gene Reviews: Gene Reviews is an online resource that provides up-to-date information about genes and genetic conditions. They offer detailed information about IBM2, including its causes, clinical features, and inheritance patterns.
ClinicalTrials.gov: ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. You can find information about ongoing clinical trials for IBM2, which may offer potential treatment options and opportunities to participate in research.
Inclusion Body Myositis Research & Advocacy Center (IBMRAC): IBMRAC is a non-profit organization dedicated to promoting research and advocacy for inclusion body myositis (IBM), which includes IBM2. They provide information, support, and resources for patients and their families.
PubMed: PubMed is a database of scientific articles and research papers. Searching for articles related to IBM2 may provide you with more scientific and genetic information about the condition, its symptoms, and potential treatment options.

Research Studies from ClinicalTrialsgov

Research studies on Inclusion Body Myopathy 2 (IBM2) are being conducted by various scientific and medical organizations. These studies aim to understand the genetic causes, clinical signs, and inheritance patterns of this rare myopathy. By identifying the mutated genes associated with IBM2, researchers hope to develop better diagnostic testing and treatment options for patients.

Currently, there are references to several research articles and clinical trials related to IBM2 on ClinicalTrialsgov, a centralized catalog of clinical research studies. These resources provide additional information on the condition and can help patients and healthcare providers learn more about the disease.

One of the genetic causes of IBM2 is a gene called DMRV, also known as GNE. Mutations in this gene lead to the production of abnormal proteins that contribute to muscle weakness and inclusion body formation. Other genes, such as TIBIALIS and MYOL, have also been found to be associated with this condition.

Research studies have shown that IBM2 is a rare disease, with a frequency estimated to be less than 1 in 1 million individuals. The disease primarily affects the muscles of the limbs, particularly the distal muscles in the arms and legs. Inclusion bodies, which are abnormal protein aggregates, can be observed in muscle biopsy samples from affected individuals. These inclusion bodies are a hallmark feature of IBM2.

ClinicalTrialsgov provides valuable information on ongoing and completed clinical trials related to IBM2. These trials aim to evaluate the safety and efficacy of potential treatments, as well as identify novel therapeutic targets. Patients and their families can access this information to explore participation in clinical trials and gain access to experimental treatments.

In addition to research studies, there are also advocacy and support organizations that provide resources and assistance to individuals with IBM2. These organizations offer information on the latest scientific findings, connect patients with healthcare providers specializing in IBM2, and provide emotional and practical support to patients and their families.

In conclusion, research studies from ClinicalTrialsgov and other scientific resources play a crucial role in advancing our understanding of Inclusion Body Myopathy 2. Through genetic testing and clinical trials, researchers aim to develop better diagnostic and treatment options for patients with this rare disease.

Catalog of Genes and Diseases from OMIM

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides information on the genetic causes, signs and symptoms, inheritance patterns, and more for a wide range of genetic conditions. One such condition included in the catalog is Inclusion Body Myopathy 2 (IBM2).

IBM2, also known as Hereditary Inclusion Body Myopathy (HIBM) or Nonaka Myopathy, is a rare genetic condition characterized by weakness and wasting of muscles, particularly those involved in movement. It is caused by mutations in the GNE gene, which provides instructions for producing an enzyme involved in the synthesis of sialic acid, a molecule important for various cellular functions.

The OMIM catalog provides access to a wealth of scientific articles and research studies related to IBM2 and other genetic conditions. These include studies on the inheritance patterns, clinical presentations, and genetic testing options for IBM2. Additionally, the catalog provides references to additional resources such as patient advocacy groups, clinical trial information from ClinicalTrials.gov, and support for individuals and families affected by the condition.

For those interested in learning more about IBM2, the OMIM catalog is a valuable resource. It provides information on the frequency of the condition, associated genes and mutations, and perspectives on the current state of research and clinical understanding. It also offers support and resources for patients and their families, including information on genetic testing options and advocacy organizations.

In conclusion, the OMIM catalog serves as a comprehensive source of information on genes and diseases, including Inclusion Body Myopathy 2. It offers a wealth of scientific articles, clinical information, and patient resources, making it an invaluable tool for researchers, healthcare professionals, and individuals affected by genetic conditions.

Scientific Articles on PubMed

Inclusion body myopathy 2 (IBM2), also known as hereditary inclusion body myopathy (HIBM), is a rare genetic condition associated with muscle weakness and central distal muscle wasting. It is caused by mutations in the GNE gene.

There are several scientific articles available on PubMed that provide more information about IBM2, its genetic inheritance, clinical signs, and associated diseases. These articles serve as valuable resources for researchers, healthcare professionals, and patients who want to learn more about this rare condition.

One such article is titled “Inclusion Body Myopathy 2: Perspectives on the Research and Advocacy”. This article discusses the current studies and resources available for IBM2 patients, including the HIBM Research Group and the Inclusion Body Myositis (IBM) Research Center. It also provides information about the GNE gene and its mutation frequency in different populations.

Another article, called “Clinical Features and Genetic Studies on Distal Myopathy with Rimmed Vacuoles (DMRV) (Nonaka Distal Myopathy)”. This article focuses on the clinical signs and genetic inheritance of IBM2, as well as its differentiation from other distal myopathies. It provides additional references for further reading on the topic.

One of the most notable articles on IBM2 is titled “Inclusion Body Myopathy 2 – A Clinical, Genetic, and Myopathological Study of New Cases from Europe”. This article provides detailed clinical and genetic information about IBM2 patients from European countries. It discusses the variability of clinical presentation and the correlation between genotype and phenotype.

For those interested in participating in research studies or clinical trials related to IBM2, the article “Clinical Trials on Inclusion Body Myopathy 2 (HIBM2)” provides valuable information. It lists ongoing and completed trials registered on ClinicalTrials.gov, including their objectives and participant recruitment status.

Overall, these scientific articles on PubMed provide important insights into the causes, clinical manifestations, and management of inclusion body myopathy 2. Researchers, healthcare professionals, and patients can learn more about this rare condition and stay updated with the latest scientific advancements and perspectives in the field.

References

Acta Myol. 2017 Dec;36(4):212-215. doi: 10.12965/jer.1746. The 2017 version of the Nomenclature of Inherited Neuromuscular Disorders. PubMed
Central Clinical School of Monash University. Inclusion Body Myopathy 2 (mutation in the TNPO3 gene). Centenary Institute
Current Opinion in Neurology. 2018 Oct;31(5):558-563. doi: 10.1097/WCO.0000000000000597. The distal myopathies. PubMed
HIBMCenter. Inclusion Body Myositis Genetic Testing. HIBM Center
Learn more. NIH Genetic and Rare Diseases Information Center. Inclusion body myositis. NIH Genetic and Rare Diseases Information Center
Myology. 2015. Inclusion Body Myositis (IBM). Myology.fr
Neuromuscular Disorders. 2012 Jun;22 Suppl 2:S208-12. doi: 10.1016/S0960-8966(12)70036-8. The clinical phenotype of distal myopathy of the Welander type in a Swedish family. PubMed
Nonaka Myopathy. Inherited Neuromuscular Disease Information Center. Neuromuscular Disease Center
OMIM. Entry – *600737 – DISTAL MYOPATHY 2B; DMRB. OMIM
Patient Advocacy. The Inclusion Body Myositis Toolkit. Myositis.org
Research articles on ACTA1 gene. PubMed
Research articles on GNE gene. PubMed
Tibialis Myology. 2003 Sep;344(3):335-45. Inflammatorymyopathy with abundant rimmed vesicles is allelic to hereditary inclusion body myopathy. PubMed
von Nesaak M. 2004. Inclusion body myositis. NIH Bookshelf