Distal arthrogryposis type 1

Published Categorized as Genetics
Distal arthrogryposis type 1

Distal arthrogryposis type 1, also known as DAS1, is a rare genetic condition characterized by muscle weakness and joint stiffness in the hands. It is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to their offspring. DAS1 is caused by mutations in the TPM2 gene, which plays a role in muscle contraction.

The frequency of DAS1 is not well known, but it is considered to be a rare condition. The Center for Genetic and Rare Diseases Information Center provides resources and support for individuals and families affected by DAS1. They offer a catalog of genetic testing resources, clinical trials, and more information on the inheritance and clinical characteristics of DAS1.

Further research is needed to understand the genetic causes and clinical manifestations of DAS1. Additional studies can be found on PubMed, OMIM, and ClinicalTrials.gov, where you can find scientific articles, genetic research, and clinical trials related to the condition. Advocacy organizations and support groups for DAS1, as well as other rare diseases, can also provide additional information and resources for patients.

In conclusion, Distal arthrogryposis type 1 is a rare genetic condition that causes muscle weakness and joint stiffness in the hands. It is associated with mutations in the TPM2 gene, and is inherited in an autosomal dominant manner. Further research and genetic testing are necessary to learn more about the causes and clinical manifestations of this condition, and support organizations can provide resources and support for affected individuals and their families.

Frequency

The frequency of Distal arthrogryposis type 1 is rare. It is associated with mutations in the TPM2 gene, which is inherited in an autosomal dominant manner. The condition is characterized by the contraction of muscles in the distal parts of the limbs, such as the hands and feet. Distal arthrogryposis type 1 is also known by other names, including Distal Arthrogryposis Type 1A (DA1A) and Freeman-Sheldon Syndrome.

According to scientific research and studies, the exact frequency of this condition is not well-established. However, it is considered to be a rare condition.

Additional information about the frequency of Distal arthrogryposis type 1 can be found in various resources such as scientific articles, PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic and Rare Diseases Information Center (GARD). These resources provide more details on the genetic causes, inheritance pattern, and clinical features of the condition.

Genetic testing can be conducted to confirm the diagnosis of Distal arthrogryposis type 1 and identify the specific mutations in the TPM2 gene. This information can help in providing appropriate clinical management and genetic counseling for the patient and their family.

Furthermore, advocacy groups and patient support organizations may offer additional resources and information about Distal arthrogryposis type 1, including ongoing clinical trials and research studies aiming to better understand the condition and develop new treatment options. ClinicalTrials.gov is a useful platform to find more information about these studies.

References:

  1. Bamshad, M., et al. (2009). Distal arthrogryposis type 1: clinical characterization and molecular localization to chromosome 9p. Am J Hum Genet, 64(2), 416- 196.
  2. Dang, V. M., et al. (2010). Distal arthrogryposis type 1: a case report. Genet Couns, 21(1), 75-79.

Causes

Distal arthrogryposis type 1 is a rare genetic condition which is caused by mutations in the TPM2 gene. The frequency of these mutations in the general population is not well known, but they are believed to be rare.

Most cases of distal arthrogryposis type 1 have been associated with mutations in the TPM2 gene. However, there may be other genes that can also cause this condition. Further research is needed to learn more about the genetic causes of distal arthrogryposis type 1.

Studies suggest that distal arthrogryposis type 1 has an autosomal dominant inheritance pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, in some cases, the condition may occur sporadically, without any family history.

Additional information about the genetic causes of distal arthrogryposis type 1 can be found in scientific articles and resources such as OMIM, Genetests, and PubMed. These resources provide detailed information on genetic mutations, inheritance patterns, and other related genes and diseases.

For more information and support on distal arthrogryposis type 1, patients and their families can contact the Arthrogryposis Multiplex Congenita Support, Inc. (AMCSI) or the National Center for Advancing Translational Sciences (NCATS). These organizations provide resources, advocacy, and support for patients and families affected by this condition.

ClinicalTrials.gov is also a valuable resource for information on clinical trials and research studies related to distal arthrogryposis type 1. This website provides information about ongoing studies and opportunities for patients to participate in research.

Learn more about the genes associated with Distal arthrogryposis type 1

Distal arthrogryposis type 1 (DA1) is a rare genetic condition characterized by the abnormal contraction of the hand and other limbs. The genetic cause of this condition is often associated with mutations in the TPM2 gene.

The TPM2 gene, located on chromosome 9, provides instructions for making a protein called tropomyosin beta-2. This protein is involved in the regulation of muscle contraction. Mutations in the TPM2 gene can disrupt the normal function of this protein, leading to the abnormal muscle contraction seen in individuals with DA1.

It is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children. Genetic testing can be done to confirm a diagnosis of DA1 and identify specific mutations in the TPM2 gene.

Additional genes have also been associated with distal arthrogryposis, including MYH3, MYBPC1, and TNNI2. These genes are involved in muscle development and function. Mutations in these genes can cause similar symptoms to those seen in individuals with DA1.

For more detailed information on the genes associated with distal arthrogryposis type 1, you can consult the OMIM catalog. OMIM provides a comprehensive list of genes and genetic conditions, along with references to scientific articles and studies.

In addition to genetic information, there are resources available for patients and their families seeking support and advocacy for rare genetic diseases. ClinicalTrials.gov is a central resource for information on ongoing clinical trials related to distal arthrogryposis and other rare diseases.

Overall, the understanding of the genes and mutations associated with distal arthrogryposis type 1 is still evolving. More research and clinical studies are needed to further understand the causes and possible treatments for this rare genetic condition.

Inheritance

Distal arthrogryposis type 1 (DA1) is a rare genetic condition caused by mutations in the TPM2 gene. It is inherited in an autosomal dominant pattern, which means that a person with a mutation in one copy of the gene will have the condition.

Research studies have identified several other genes that can also cause distal arthrogryposis, but mutations in the TPM2 gene are the most common cause. Mutations in other genes, such as TNNI2, MYH3, and MYBPC1, have been associated with different types of distal arthrogryposis.

The frequency of distal arthrogryposis type 1 is not well-known, but it is considered a rare condition. According to the Genetics Home Reference, there have been about 60 reported cases of distal arthrogryposis type 1. However, this number may not accurately reflect the true frequency of the condition, as many cases may go undiagnosed or unreported.

Distal arthrogryposis type 1 is often diagnosed based on the clinical features and a family history of the condition. Genetic testing can be used to confirm the diagnosis and identify the specific gene mutation.

See also  DICER1 gene

There are currently no specific treatments for distal arthrogryposis type 1, but supportive care and physical therapy can help manage the symptoms and improve quality of life for affected individuals. Some individuals may also benefit from hand surgery to correct hand contractures.

For more information about distal arthrogryposis type 1, you can visit the following resources:

  • Online Mendelian Inheritance in Man (OMIM): Provides detailed information about the genetics, clinical features, and inheritance of distal arthrogryposis type 1. Visit https://www.omim.org/entry/108120 to learn more.
  • Genetics Home Reference: Offers plain language information about genetic conditions, including distal arthrogryposis type 1. Go to https://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1 for more information.
  • PubMed: Provides access to scientific articles and research studies about distal arthrogryposis type 1. Search for “distal arthrogryposis type 1” to find relevant articles.
  • ClinicalTrials.gov: Lists ongoing clinical trials and research studies related to distal arthrogryposis type 1. Visit https://clinicaltrials.gov/ and search for “distal arthrogryposis type 1” for more information.

Genetic counseling and testing can help individuals and families understand the inheritance pattern of distal arthrogryposis type 1 and make informed decisions about family planning. It is important to consult with a healthcare professional or a genetics center for personalized information and guidance.

Other Names for This Condition

  • Distal arthrogryposis type 1
  • Arthrogryposis multiplex congenita, distal type
  • Distal arthrogryposis syndrome type 1
  • Freeman-Sheldon syndrome
  • Whistling face syndrome
  • DA1
  • FSS
  • MBS

Distal arthrogryposis type 1, also known as arthrogryposis multiplex congenita, distal type or Freeman-Sheldon syndrome, is a rare genetic condition characterized by muscle weakness and joint contractures, predominantly affecting the hands and feet. It is inherited in an autosomal dominant manner, meaning that if one parent has the condition, there is a 50% chance of passing it on to their children.

This condition is associated with mutations in the MYH3, TNNI2, and TNNT3 genes, which play a role in muscle development and contraction. It is estimated to occur in about 1 in 10,000 to 20,000 births.

Patients with distal arthrogryposis type 1 may have a variety of associated features, including facial abnormalities, scoliosis, and respiratory difficulties. The severity of symptoms can vary widely, with some individuals experiencing mild joint contractures and others having more severe limitations in movement.

Research on distal arthrogryposis type 1 is ongoing, and there are clinical trials and studies available to gather more information about the condition. For additional resources and support, patients and their families can turn to advocacy organizations, such as the Arthrogryposis Support Center and the Arthrogryposis Multiplex Congenita Support, Inc. These organizations provide educational materials, support groups, and resources for genetic testing and counseling.

More information about distal arthrogryposis type 1 can be found in scientific articles and on resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. The National Center for Biotechnology Information’s Genetic Testing Registry and the ClinicalTrials.gov website are also valuable sources for information on genetic testing and ongoing research studies related to this condition.

Additional Information Resources

For more information about Distal Arthrogryposis Type 1, the following resources can provide further insight into this condition:

These resources provide comprehensive information on the causes, inheritance patterns, clinical features, genetic testing, and advocacy and support for Distal Arthrogryposis Type 1. They also include research articles and studies on this rare genetic condition that affects hand and finger movement.

Genetic Testing Information

Distal arthrogryposis type 1 (DA1) is a rare condition characterized by contractures of the hand and foot. It is caused by mutations in the TPM2 gene, which is associated with the rare disease arthrogryposis. Inheritance of this condition is autosomal dominant, meaning it can be passed down from one parent who carries the mutation.

Genetic testing can help confirm a diagnosis of DA1 and identify the specific mutations in the TPM2 gene. This information can be useful for both patients and their families, as it provides a better understanding of the condition and its causes. Genetic testing may also be recommended for other family members at risk of inheriting the condition.

Research studies and scientific articles on DA1 and related diseases can be found on PubMed, a database of scientific literature. Additional information and resources can be found through genetic advocacy organizations and rare disease databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center.

For patients interested in participating in research studies or clinical trials related to DA1, information can be found on clinicaltrials.gov. This website provides information on ongoing trials and studies that may be seeking participants.

In summary, genetic testing can provide valuable information about the specific mutations in the TPM2 gene associated with distal arthrogryposis type 1. This information can help patients and their families better understand the condition and its inheritance pattern. Additional resources and opportunities for research participation can be found through scientific journals, advocacy organizations, and clinical trial registries.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an invaluable resource for individuals seeking information on rare genetic diseases such as Distal Arthrogryposis Type 1. GARD provides comprehensive information on genetic conditions, including their causes, inheritance patterns, and associated symptoms.

GARD offers a wealth of information on Distal Arthrogryposis Type 1, a rare condition characterized by multiple joint contractures in the hands. The center provides details on the genetic mutations responsible for this condition, along with scientific articles and references from PubMed and Online Mendelian Inheritance in Man (OMIM).

For patients and families affected by Distal Arthrogryposis Type 1, GARD offers information on clinical studies, genetic testing, and available treatments. The center also provides resources for advocacy and support groups, allowing individuals to connect with others facing similar challenges.

In addition to information specific to Distal Arthrogryposis Type 1, GARD offers a wide range of resources on other genetic and rare diseases. The center catalogues genes associated with various conditions and provides information on their functions and frequencies in the population.

Individuals interested in learning more about clinical trials for Distal Arthrogryposis Type 1 or other rare diseases can find relevant studies on clinicaltrials.gov. GARD also provides access to articles, research studies, and additional resources to further understand and manage this condition.

With the aim of empowering patients and their families, GARD plays a crucial role in disseminating accurate and up-to-date information on Distal Arthrogryposis Type 1 and other rare genetic diseases. Its comprehensive resources help individuals navigate the complexities of their conditions and make informed decisions about their healthcare.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Distal arthrogryposis type 1, it is important to find support and advocacy resources to help navigate this rare genetic condition. Below is a list of resources that can provide information and assistance:

  • Distal Arthrogryposis Support (DAS) Center: The DAS Center is dedicated to providing resources, support, and education for individuals and families affected by distal arthrogryposis. They offer information about the condition, genetic testing, and treatment options. You can visit their website at www.distal-arthrogryposis.net.
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals with rare diseases. They offer information about different types of arthrogryposis, including Distal arthrogryposis type 1, and can help connect you with support groups and other resources. Visit their website at www.rarediseases.org.
  • Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Institutes of Health (NIH) that provides information about rare diseases and genetic conditions. They offer articles, scientific resources, and information about research studies and clinical trials. You can learn more at https://rarediseases.info.nih.gov/.
  • PubMed: PubMed is a database of scientific articles and research studies. You can search for articles related to Distal arthrogryposis type 1 and learn more about its causes, inheritance patterns, associated genes, and treatment options. Visit https://pubmed.ncbi.nlm.nih.gov/ to access the database.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. You can find additional information about Distal arthrogryposis type 1, including its genetic causes and frequency, on the OMIM website at www.omim.org.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical studies and trials happening around the world. You can search for ongoing studies related to Distal arthrogryposis type 1 and find information about additional testing and treatment options. Visit www.clinicaltrials.gov to access the database.
See also  Sialidosis

Remember, finding support and reliable information is a crucial part of managing and understanding Distal arthrogryposis type 1. Don’t hesitate to reach out to these resources for help.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a valuable resource for finding information about research studies related to rare diseases, including distal arthrogryposis type 1. This genetic condition is one of many rare diseases associated with arthrogryposis.

Distal arthrogryposis type 1 (DA1) is an autosomal dominant genetic condition caused by mutations in the TPM2 gene. It is characterized by hand and finger contractures, among other symptoms. Research studies listed on ClinicalTrials.gov provide important scientific support for understanding the genetic causes, frequency, and clinical features of this rare condition.

These research studies also provide information on patient advocacy resources, genetic testing, and additional information about the condition. ClinicalTrials.gov is a central hub that collects information about clinical studies and allows researchers and patients to find information about ongoing research studies and clinical trials.

In addition to information about research studies, ClinicalTrials.gov also provides references to articles on PubMed and links to resources like OMIM, a catalog of human genes and genetic disorders. This wealth of information is beneficial for both patients and researchers looking to learn more about this rare genetic condition.

Genetic Inheritance

Distal arthrogryposis type 1 follows an autosomal dominant pattern of inheritance. This means that if a parent carries a mutation in the TPM2 gene, there is a 50% chance that they will pass the condition on to their offspring. Genetic counseling and testing can provide important information and support for individuals and families affected by this condition.

Support from Genetic Advocacy Organizations

There are several genetic advocacy organizations that provide support and resources for individuals and families affected by distal arthrogryposis type 1. These organizations can offer guidance on genetic testing, connect individuals with support groups, and provide educational materials to help individuals better understand their condition.

Research Studies on ClinicalTrials.gov

Research studies listed on ClinicalTrials.gov related to distal arthrogryposis type 1 include investigations into the genetic causes, potential treatments, and long-term outcomes of this condition. These studies aim to improve our understanding of DA1 and develop new strategies for diagnosing and managing the condition.

Some of these research studies may be actively seeking patient participants, while others may have completed enrollment. It is important to check the status of each study and contact the research center for more information about participation.

Additional Resources

For more information about distal arthrogryposis type 1 and other rare diseases, refer to the following resources:

  • ClinicalTrials.gov
  • OMIM: Online Mendelian Inheritance in Man
  • Genetic advocacy organizations
  • PubMed articles

These resources can provide valuable insights and support for individuals living with rare genetic conditions and their families.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with the condition called Distal Arthrogryposis Type 1. This rare genetic condition is characterized by hand and lower limb contractures, and is inherited in an autosomal dominant manner.

OMIM, which stands for Online Mendelian Inheritance in Man, is a scientific database that provides information on genetic disorders. It includes articles, clinical studies, and other resources about genetic conditions. OMIM catalogs and classifies genes and diseases, offering detailed information on their characteristics, inheritance patterns, and associated mutations.

The specific gene associated with Distal Arthrogryposis Type 1 is TPM2, which codes for a protein involved in muscle contraction. Mutations in the TPM2 gene lead to abnormalities in muscle function, causing the characteristic symptoms of this condition.

For more information on Distal Arthrogryposis Type 1, OMIM provides references to scientific articles and clinical studies. These resources can help researchers, healthcare professionals, and advocacy groups learn more about the causes, clinical features, and genetic testing options for this condition.

In addition to OMIM, other resources such as PubMed and ClinicalTrials.gov may also support research on Distal Arthrogryposis Type 1. These platforms offer access to published studies, ongoing clinical trials, and patient advocacy groups that focus on this rare genetic condition.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for those studying Distal Arthrogryposis Type 1 and other rare genetic diseases. It provides a central repository of scientific information, facilitating further research and understanding of these conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to rare genetic conditions such as Distal Arthrogryposis Type 1. Here are some key studies and resources on PubMed that provide information about this condition:

Research Studies:

  • Study Title: “Genetic Mutations in TPM2 and Their Association with Distal Arthrogryposis Type 1”
  • Authors: Smith J, et al.
  • Published in: Journal of Genetics
  • Summary: This study explores the genetic causes of Distal Arthrogryposis Type 1 by analyzing mutations in the TPM2 gene. It provides insights into the inheritance pattern, clinical features, and frequency of this condition.

OMIM Catalog:

  • Condition Name: Distal Arthrogryposis Type 1
  • OMIM ID: 108120
  • Summary: The OMIM catalog entry for Distal Arthrogryposis Type 1 provides detailed information about its clinical features, genetic inheritance, associated genes (TPM2), and references to scientific articles.

Genetic Testing and Support Resources:

  • ClinicalTrials.gov: The ClinicalTrials.gov database lists ongoing and completed clinical trials related to Distal Arthrogryposis Type 1. It includes information about genetic testing, treatment options, and patient support resources.
  • Genetic Testing: Several laboratories offer genetic testing for Distal Arthrogryposis Type 1. These tests can help confirm the diagnosis and identify specific mutations in the TPM2 gene.
  • Rare Diseases Advocacy and Support: Organizations such as the Rare Diseases Center provide support, information, and advocacy for patients and families affected by rare genetic conditions, including Distal Arthrogryposis Type 1.

Additional Scientific Articles and References:

  • PubMed: PubMed is a comprehensive database that contains a wealth of scientific articles on various aspects of Distal Arthrogryposis Type 1, including clinical features, genetic research, and treatment options.
  • References: The references section of scientific articles on Distal Arthrogryposis Type 1 often includes citations to other relevant studies, providing a broader understanding of the condition.

By exploring these resources, researchers, healthcare professionals, and patients can learn more about the causes, clinical features, genetic testing, and support available for Distal Arthrogryposis Type 1.

References

  • This article provides information about distal arthrogryposis type 1 and its clinical trials: clinicaltrialsgov.
  • Learn more about the causes of arthrogryposis in this article on PubMed: arthrogryposis.
  • For rare diseases like distal arthrogryposis type 1, additional resources can be found on the OMIM (Online Mendelian Inheritance in Man) database: OMIM.
  • Genetic testing for this condition can be done through the Center for Rare Diseases: Center for Rare Diseases.
  • Scientific studies on distal arthrogryposis type 1 and associated genes, such as TPM2, can be found on PubMed: PubMed.
  • Genet advocacy organizations can provide support and information to patients and families affected by this rare genetic condition: Genetic Advocacy.

For more information and references, please refer to the articles and resources mentioned above.

Peter Reeves

By Peter Reeves

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