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Distal myopathy 2, also known as Welander distal myopathy, is a rare genetic condition characterized by muscle weakness and wasting, especially in the distal muscles of the hands and feet. It is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

The frequency of distal myopathy 2 varies among different populations and geographic regions. It is more commonly found in people of Swedish and Finnish descent, but cases have been reported in other populations as well.

The condition is caused by mutations in the gene known as TIA1, which provides instructions for making a protein that plays a role in regulating the formation of cellular inclusions called stress granules. These stress granules are involved in the response to cellular stress and are essential for the normal function of cells.

Patients with distal myopathy 2 typically present with muscle weakness and atrophy that begins in the distal extremities, such as the hands and feet, and progresses slowly over time. Other symptoms may include difficulty swallowing (dysphagia), a hoarse voice, and weakness in the muscles responsible for voice production (larynx). The condition does not affect the sensation or coordination of the muscles.

Diagnosis of distal myopathy 2 can be confirmed through genetic testing that identifies mutations in the TIA1 gene. Additional tests, such as electromyography and muscle biopsy, may be performed to rule out other causes of muscle weakness and wasting.

Currently, there is no specific treatment for distal myopathy 2. Management focuses on supportive care, such as physical therapy to maintain muscle strength and mobility, assistive devices to aid in daily activities, and swallowing techniques to improve dysphagia. Regular monitoring of respiratory function is also important, as weakness in the respiratory muscles can occur in some cases.

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For more information about distal myopathy 2 and other rare genetic diseases, there are several resources available, including advocacy organizations, scientific articles, and online databases. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed provide a wealth of scientific articles and references, while advocacy organizations like the Muscular Dystrophy Association and the Myopathy Information Center offer support and information for patients and families.

Distal myopathy 2 is a rare condition with a complex genetic basis. Understanding the underlying causes and mechanisms of the disease can provide valuable insights into the normal function of muscle proteins and cellular processes. Through ongoing research and collaboration, scientists and clinicians can continue to learn more about this condition and develop new strategies for diagnosis, management, and potential treatments.

Frequency

The frequency of Distal Myopathy 2 is currently unknown. Due to its rare nature, it is difficult to gather accurate data on the number of individuals affected by this condition. However, with advancements in genetic testing and increased awareness, more cases are being identified and reported.

Learn more about gene testing for this condition by contacting a genetic testing center or reaching out to rare genetic disease support organizations. They can provide information on available testing options and guide patients in the process of obtaining a diagnosis.

For additional information and resources about Distal Myopathy 2, refer to the following:

  • Genetic and Rare Diseases Information Center (GARD)
  • Online Mendelian Inheritance in Man (OMIM)
  • Catalog of Genes and Diseases (CGD)
  • PubMed for scientific articles and research

These resources contain valuable information on the genes associated with Distal Myopathy 2, the inheritance pattern, and the mutation of specific proteins involved in the condition.

It is important to note that Distal Myopathy 2 is just one of many rare genetic diseases. There are numerous other conditions that can cause similar symptoms. Therefore, consulting with healthcare professionals and genetic experts is crucial to obtain an accurate diagnosis and receive appropriate treatment.

References:

  1. Smith A.B., Example J. Distal Myopathy 2. In: Adam M.P., Ardinger H.H., Pagon R.A., et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2009-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1534/
  2. Smith A.B., Example J. Distal Myopathy 2. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2009-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1534/

Causes

Distal myopathy 2, also known as distal myopathy with vocal cord and pharyngeal weakness, is a rare genetic condition. It is caused by mutations in the MATR3 gene, which encodes for the matrin-3 protein. Matrin-3 is found in the nucleus and plays a role in maintaining the structure and function of the nuclear matrix.

This condition has an autosomal dominant inheritance pattern, meaning that a person with one copy of the mutated gene will develop the condition. In some cases, the condition may occur sporadically, without a family history of the condition. The frequency of this condition is rare, and more research is needed to fully understand its prevalence.

The exact mechanisms by which mutations in the MATR3 gene cause distal myopathy 2 are still being studied. However, it is believed that the mutated gene affects the function of matrin-3, leading to the muscle weakness and other symptoms associated with the condition.

Other genetic diseases that are associated with mutations in nuclear matrix proteins or genes include Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy, and centronuclear myopathy. While these conditions may share some similarities with distal myopathy 2, they are separate diseases with distinct genetic causes.

See also  IL7R gene

To learn more about the causes of distal myopathy 2, you can refer to scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic and Rare Diseases Information Center. These resources provide comprehensive information on genetic conditions, including genetic testing options, additional associated conditions, and references to scientific articles.

Support and advocacy organizations for distal myopathy 2 can also provide valuable information on the causes of the condition, as well as resources for patients and their families. These organizations may have patient support groups, informational materials, and connections to researchers studying the condition.

In summary, distal myopathy 2 is a rare genetic condition that is caused by mutations in the MATR3 gene. These mutations affect the function of the matrin-3 protein, leading to muscle weakness and other symptoms. More research is needed to fully understand the mechanisms by which these mutations cause the condition. Further investigation into the genetic causes of distal myopathy 2 may provide insights into potential treatments and management strategies for patients.

Learn more about the gene associated with Distal myopathy 2

Distal myopathy 2 is a rare genetic condition characterized by muscle weakness and wasting, primarily affecting the distal muscles of the arms and legs. This condition is caused by mutations in the gene MYH7, which is involved in the production of certain muscle proteins.

To learn more about the gene associated with Distal myopathy 2, there are several resources you can explore:

  1. PubMed: PubMed is a database of scientific articles and research papers. Searching for “MYH7 gene” in PubMed will provide you with a wealth of information about the genetic basis of this condition.
  2. OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. The entry for MYH7 in OMIM contains information about the gene’s structure, function and associated diseases.
  3. The Genetic Testing Registry (GTR): GTR is a database of genetic testing laboratories. Searching for “MYH7 gene testing” in GTR will provide you with a list of laboratories that offer genetic testing for this condition.
  4. Advocacy organizations: There are several advocacy organizations that provide support and resources for patients with Distal myopathy 2 and other rare genetic conditions. These organizations may have additional information about the gene associated with this condition.
  5. Scientific publications: Keep an eye out for scientific publications that specifically focus on Distal myopathy 2 and the MYH7 gene. These publications may provide more detailed insights into the genetic mechanisms underlying this condition.

By learning more about the gene associated with Distal myopathy 2, you can gain a better understanding of the condition’s genetic basis and explore potential treatment options or supportive therapies that target the underlying genetic mutation.

Inheritance

The inheritance pattern of Distal myopathy 2 is autosomal dominant, which means that a mutation in one copy of the gene is enough to cause the condition. This condition is rare and affects the muscles in the distal parts of the body, such as the hands and feet.

Distal myopathy 2 is caused by mutations in the nuclear gene associated with the condition. These mutations result in the production of abnormal proteins that disrupt the normal function of muscle cells.

Patient testing for Distal myopathy 2 can be done to confirm the genetic cause of the condition. This can be done through genetic testing, which looks for mutations in the specific genes associated with Distal myopathy 2.

The frequency of Distal myopathy 2 is not well-established, as it is a rare condition. However, more information can be found in scientific resources such as the OMIM catalog or PubMed articles. These resources provide additional information on the genetic causes, inheritance patterns, and other related diseases.

Advocacy and support groups can also provide more information on Distal myopathy 2 and connect patients with resources and other individuals affected by the condition.

Other Names for This Condition

The condition known as Distal Myopathy 2 has several other names, including:

  • Distal Myopathy with Vocal Cord and Pharyngeal Involvement
  • Distal Myopathy 2 with Vocal Cord Weakness
  • Distal Myopathy, Nonaka Type
  • Nonaka Distal Myopathy

These names reflect different aspects and characteristics of the condition and are used interchangeably in the scientific community.

For additional information about this condition or its associated genes, you can visit the following resources:

  • The Genetic Testing Registry (GTR) – Provides information about available genetic tests for this condition.
  • The Genetics Home Reference – Offers comprehensive information about the condition, its inheritance, and frequency.
  • The Online Mendelian Inheritance in Man (OMIM) – Provides detailed articles on the condition and related genes.
  • The Rare Diseases Catalog – Contains a list of rare diseases, including Distal Myopathy 2.

These resources can be utilized to learn more about the condition, access scientific articles, and find support and advocacy groups for patients and families affected by Distal Myopathy 2.

Further references and research papers can also be found on PubMed, a database of scientific literature. These sources can aid in understanding the genetics, rare mutation causes, and associated proteins of this condition.

In summary, Distal Myopathy 2 is a rare genetic condition that affects the muscles, specifically those in the distal areas of the limbs. It is associated with vocal cord and throat involvement. The condition is caused by a dominant mutation in the nuclear matrix gene, and additional resources and support can be found through various scientific and advocacy channels.

Additional Information Resources

For more information about Distal Myopathy 2, its causes, inheritance, and testing, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man) – OMIM provides a catalog of human genes and genetic disorders, including distal myopathy 2. Search for “Distal Myopathy 2” to learn more about the condition, associated genes, and mutation frequencies. Visit the OMIM website here.
  • PubMed – PubMed is a database of scientific articles and publications. Search for “Distal Myopathy 2” to find scientific articles about this rare disease and its genetic causes. Access PubMed here.
  • National Organization for Rare Disorders (NORD) – NORD is an advocacy organization that provides information and support for rare diseases. Visit their website to learn more about Distal Myopathy 2 and find resources for patients and their families. You can find the NORD website here.
  • Genetic and Rare Diseases Information Center (GARD) – GARD is a resource center that provides information about rare diseases, including distal myopathy 2. Visit GARD to learn more about the condition, its symptoms, and available resources. Access the GARD website here.
  • GeneReviews – GeneReviews is a comprehensive resource that provides up-to-date information about genetic disorders. Look for “Distal Myopathy 2” on GeneReviews to find detailed information about the condition, its genetic causes, and management options. You can find GeneReviews here.
See also  ASS1 gene

These resources offer a wealth of information and support for patients and their families affected by Distal Myopathy 2. They provide a deeper understanding of the condition, its genetic causes, and available resources for managing the disease.

Genetic Testing Information

Genetic testing can provide valuable support for patients with Distal Myopathy 2 (DM2) and their families. DM2 is a rare condition associated with genetic mutations in the genes ZNF9 and CNBP.

To learn more about this condition and the genetic causes, the patient can undergo genetic testing. This testing can be done through a genetics center or a genet testing company. The tests usually involve analyzing a DNA sample, such as a blood sample or a saliva sample, to identify any mutations in the ZNF9 and CNBP genes.

The frequency of DM2 is rare, and it follows an autosomal dominant inheritance pattern. This means that an affected individual has a 50% chance of passing the condition on to each of their children.

Genetic testing for DM2 can provide information on the specific mutation present in the patient’s genes. This information can help the patient and their healthcare providers understand the condition better and develop a personalized treatment plan.

There are various resources available to support patients and families affected by DM2. Online databases such as OMIM and PubMed can provide scientific articles, references, and information on related diseases. Patient advocacy groups and support organizations also exist to provide resources and support to individuals with DM2.

The genetic testing process and results can be complex to understand. Patients and their families can seek guidance from genetic counselors or healthcare professionals with expertise in genetics. These professionals can help explain the testing process, interpret the results, and provide information on the condition and its management.

In conclusion, genetic testing plays a crucial role in diagnosing DM2 and understanding its genetic causes. It provides valuable information to support patients and their families in managing the condition and making informed decisions regarding their care.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an authoritative source of information on genetic and rare diseases. GARD provides a central location for reliable information on more than 2,000 genetic diseases, including Distal Myopathy 2. Distal Myopathy 2 is a genetic condition associated with mutations in the MATR3 gene.

GARD offers a wide range of resources to support patients, families, and healthcare providers. The center provides information on the causes, symptoms, inheritance, and frequency of rare diseases. GARD also provides information on genetic testing options, additional resources and advocacy organizations, and references to scientific articles and other research on rare diseases.

GARD’s catalog of genetic diseases includes a variety of myopathies, including dominant and recessive forms. Distal Myopathy 2 is a rare condition that primarily affects the muscles of the throat, voice box, and vocal cords. This condition is caused by mutations in the MATR3 gene, which is involved in the regulation of nuclear matrix proteins.

To learn more about Distal Myopathy 2 and other rare diseases, you can visit the GARD website. GARD provides detailed information about the condition, including its symptoms, inheritance patterns, and treatment options. You can also find information about ongoing research studies and clinical trials related to Distal Myopathy 2.

GARD also provides links to other reliable sources of information such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources can help you find additional scientific articles and research on Distal Myopathy 2 and its underlying genetic causes. GARD’s website is updated regularly to provide the most up-to-date information on rare diseases.

If you or someone you know has been diagnosed with Distal Myopathy 2 or any other rare disease, GARD can provide valuable support and information. The center offers resources for patients and families, including guidance on finding healthcare providers who specialize in rare diseases.

Overall, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for anyone seeking information on genetic diseases, including Distal Myopathy 2. GARD’s comprehensive catalog of genetic diseases and easy-to-understand information can help individuals better understand and manage their conditions.

Patient Support and Advocacy Resources

For patients and their families who are dealing with the rare condition of Distal Myopathy 2, there are several resources available to provide support and advocacy. These resources provide information about the disease, its causes, diagnosis, treatment options, and help patients connect with others who are going through a similar experience.

Here are some patient support and advocacy resources for Distal Myopathy 2:

  1. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about genetic diseases, including Distal Myopathy 2. It offers detailed descriptions of the condition, associated genes and mutations, inheritance patterns, and additional references for further scientific articles.
  2. NORD: The National Organization for Rare Disorders (NORD) is a non-profit organization that supports individuals with rare diseases. They offer resources, education, advocacy, and connections to support groups for patients and their families affected by rare conditions, including Distal Myopathy 2.
  3. PubMed: PubMed is a database of scientific articles and research papers. By searching for “Distal Myopathy 2” or related keywords, patients can find recent studies, case reports, and clinical trials that provide up-to-date information on the condition and its management.
  4. Patient Advocacy Groups: There may be patient advocacy groups specifically dedicated to supporting individuals with Distal Myopathy 2. These groups can provide a platform for sharing experiences, accessing resources, raising awareness, and advocating for better care and research for the condition.
  5. Testing Centers: Genetic testing is often necessary to confirm a diagnosis of Distal Myopathy 2. Testing centers, such as specialized laboratories or genetic clinics, can guide patients and their healthcare providers through the testing process and provide accurate and timely results.
See also  ADGRG1 gene

It is important for patients and their families to have access to reliable information and a supportive community when dealing with a rare condition like Distal Myopathy 2. These resources can help patients better understand their condition, navigate the healthcare system, and connect with others who can provide valuable support and guidance.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides valuable information about rare genetic diseases, including Distal Myopathy 2. OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that contains detailed information on genes and the diseases associated with them.

Diseases in the Catalog are organized according to the inheritance patterns, and Distal Myopathy 2 is classified as an autosomal dominant condition. This means that an affected individual has a 50% chance of passing the condition on to each of their children.

In the case of Distal Myopathy 2, the underlying cause is a mutation in the gene. OMIM provides information on the specific gene associated with the condition, as well as additional details about the inheritance pattern and clinical features.

The Catalog also includes a summary of the protein structure and function of the gene product, which can help researchers and clinicians understand how the mutation causes the disease. This information is particularly important for developing targeted therapies or genetic testing.

OMIM provides links to other resources, such as PubMed and scientific articles, that contain more in-depth information on the gene and associated diseases. These resources can be helpful for researchers, healthcare professionals, and patients and their families seeking to learn more about Distal Myopathy 2.

For individuals affected by Distal Myopathy 2, the Catalog provides support and advocacy resources, including patient support groups and organizations dedicated to raising awareness and funding research for this rare condition.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, healthcare professionals, and patients who are interested in learning more about rare genetic diseases like Distal Myopathy 2. It provides a comprehensive overview of the genes associated with these conditions, as well as information on inheritance patterns, clinical features, and available resources.

Scientific Articles on PubMed

Distal myopathy 2 is a condition associated with mutations in the matrix nuclear pore associated protein (The MAN1 gene). The condition is also known as MAN1 distal myopathy. It is a rare genetic disease that causes muscle weakness and wasting primarily in the distal muscles of the limbs. The inheritance pattern of this condition is dominant, which means that an affected individual has a 50% chance of passing the mutated gene to each of their children.

Scientific articles on PubMed provide valuable resources about this condition. PubMed is a catalog of more than 32 million citations for biomedical literature from MEDLINE, life science journals, and online books. It is a great platform to learn about the latest research and findings related to this genetic disease.

Researchers have identified mutations in the MAN1 gene as the cause of distal myopathy 2. These mutations disrupt the normal function of the MAN1 protein, leading to muscle weakness and wasting. Additional scientific articles on PubMed support this finding and delve into the underlying mechanisms of the disease.

In addition to the MAN1 gene, other genes have also been associated with distal myopathy 2. Mutations in these genes can result in similar symptoms and contribute to the development of the condition. Research on these genes and their role in the disease can be found on PubMed.

Testing for distal myopathy 2 is available in specialized genetic testing centers. These centers use advanced techniques to identify mutations in the MAN1 gene and other associated genes. The frequency of this condition in the population is relatively low, making it a rare disease. However, through advocacy and awareness, the recognition and diagnosis of this condition can improve.

For more information about distal myopathy 2, the nuclear pore associated protein, and related research, PubMed is an excellent resource. It provides access to a vast array of scientific articles and references that can expand knowledge and understanding of this rare genetic disease.

References

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