Ataxia-telangiectasia

Ataxia-telangiectasia (AT) is a rare genetic condition that affects multiple systems in the body. It is caused by alterations in the genes responsible for cell cycle control and DNA repair.

AT is characterized by a wide range of symptoms, including progressive neurological problems, immune system dysfunction, and an increased risk of developing certain cancers. The most noticeable features of AT are ataxia, which is a lack of coordinated muscle movements, and telangiectasia, which are dilated blood vessels that appear as red marks on the skin and eyes.

Research into the causes and treatments for AT is ongoing, with numerous articles and studies published on the topic. The National Ataxia Foundation provides support and resources for individuals and families affected by AT, and the clinicaltrialsgov and OMIM databases offer additional information on clinical trials and genetic testing.

There is currently no cure for AT, and treatment focuses on managing the symptoms and complications associated with the condition. Physical and occupational therapy can help improve muscle coordination and function, while medications and other interventions may be used to address specific medical issues. Early diagnosis and intervention are important for optimizing outcomes and quality of life.

Frequency

The frequency of Ataxia-telangiectasia is rare, with an estimated prevalence of 1 in 40,000 to 100,000 individuals worldwide. The condition is inherited in an autosomal recessive pattern, meaning that individuals with one altered gene are carriers and do not usually develop the condition. Only when an individual inherits two altered copies of the gene, one from each parent, do they develop Ataxia-telangiectasia.

Genetic testing can help to identify carriers and individuals with the condition. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on the gene associated with Ataxia-telangiectasia.1

ClinicalTrials.gov is a useful source for information about clinical trials for Ataxia-telangiectasia, including treatments and genetic testing. PubMed contains scientific articles and research studies on Ataxia-telangiectasia and related topics2. Advocacy organizations and genetic information resources, such as the National Ataxia-Telangiectasia Foundation and the Genetic and Rare Diseases Information Center, can also provide additional information and support34.

Overall, due to its rarity, Ataxia-telangiectasia presents a unique set of challenges for patients, their families, and healthcare systems. Continued research and clinical trials are essential for developing better treatments, understanding the causes and inheritance of the condition, and improving the lives of those affected by this rare disease.

  1. OMIM – Ataxia-Telangiectasia; ATM
  2. PubMed – Ataxia-Telangiectasia
  3. National Ataxia-Telangiectasia Foundation
  4. Genetic and Rare Diseases Information Center

Causes

Ataxia-telangiectasia (A-T) is a rare genetic condition. It is caused by mutations in the ATM gene. The ATM gene provides instructions for making a protein that helps control the cell cycle and repair damaged DNA.

According to OMIM, more than 700 different mutations in the ATM gene have been identified in people with A-T. These mutations can disrupt the function of the ATM protein, leading to the signs and symptoms of the condition.

Research studies, including those published on PubMed and conducted at specialized centers such as AT Children’s Foundation, have provided valuable information about the inheritance pattern and clinical manifestations of A-T. These resources help researchers and healthcare professionals learn more about A-T and develop diagnostic testing and treatment strategies for patients.

A-T is inherited in an autosomal recessive manner, which means that affected individuals have inherited two copies of the altered gene, one from each parent who is a carrier of the condition. Carriers of the ATM gene mutation do not typically exhibit any symptoms of A-T.

Patients with A-T experience problems in multiple systems of the body, including the nervous, immune, and respiratory systems. The ATM gene mutation affects the normal development and function of these systems, resulting in the various symptoms associated with A-T.

Genetic testing is available to confirm a diagnosis of A-T and to identify specific mutations in the ATM gene. Additional information on testing and genetic counseling can be found on the Center for Inherited Disease Research (CIDR) and AT Children’s Foundation websites.

Despite ongoing research efforts, there is currently no cure for A-T. However, genetic testing and clinical trials listed on ClinicalTrials.gov can help identify potential treatments and interventions to manage the symptoms of A-T.

In addition to scientific research, advocacy groups and support organizations play a crucial role in raising awareness about A-T, supporting affected individuals and their families, and funding research into potential treatments and therapies. Many articles and resources, including those published on PubMed, can provide further information on A-T and related topics.

Overall, understanding the genetic causes of A-T and ongoing research into potential treatments and interventions provide hope for improved outcomes and quality of life for individuals with this rare condition.

Learn more about the gene associated with Ataxia-telangiectasia

Ataxia-telangiectasia (A-T) is a rare genetic condition that affects multiple systems in the body. The gene associated with A-T is called ATM (ataxia-telangiectasia mutated). Through extensive research, scientists have identified this gene as the cause of the condition.

To learn more about the gene ATM, you can refer to scientific articles on research platforms like PubMed. PubMed is a database that provides references to a wide range of research articles, including those related to A-T and the ATM gene. This valuable resource can help you gain a deeper understanding of the gene’s function, role in the development of the condition, and potential treatment strategies.

Additionally, there are other resources available that provide information about A-T, the genetic causes of the condition, and available testing. Centers specializing in A-T can offer testing services, including genetic testing, to diagnose and identify carriers of altered ATM genes. By understanding the genetic basis of A-T, you can better advocate for yourself or loved ones affected by the condition.

For more information on testing and available resources, you can visit the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on various genetic diseases, including A-T, and can help you learn about the genetics, inheritance patterns, and potential problems associated with the condition.

Another valuable resource is ClinicalTrials.gov, which lists ongoing or completed clinical trials related to A-T. Clinical trials are essential for advancing the knowledge about A-T and developing potential treatments. By staying informed about ongoing trials, you can find opportunities to participate and contribute to the scientific understanding of A-T.

In summary, learning more about the gene associated with Ataxia-telangiectasia, called ATM, can provide valuable insights into the condition’s genetics, associated problems, and potential treatments. Resources such as PubMed, OMIM, and ClinicalTrials.gov can offer a wealth of scientifically validated information, helping patients, caregivers, and advocates navigate the rare disease landscape.

Inheritance

Ataxia-telangiectasia (A-T) is an autosomal recessive genetic condition. This means that both parents must be carriers of an altered A-T gene in order to have a child with A-T.

A-T is associated with alterations in the ATM gene. The ATM gene provides instructions for making a protein that is involved in repairing damaged DNA in cells. When the ATM gene is altered, it leads to problems with the body’s DNA repair systems, and this can result in the symptoms and characteristics of A-T.

Carrier testing is available to individuals who have a family history of A-T or are concerned about being carriers. The ATM gene can be tested for alterations to determine carrier status. This information can help individuals and families make informed decisions about family planning.

For families affected by A-T, genetic counseling and testing can provide valuable information and support. Genetic counselors can help individuals and families understand the inheritance pattern of A-T, discuss risks and options for future pregnancies, and provide resources and support for managing the condition.

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Additional information about the inheritance of A-T can be found in scientific articles and research studies. PubMed and OMIM (Online Mendelian Inheritance in Man) are valuable resources for learning more about the genetics and inheritance of A-T.

ClinicalTrials.gov is another useful resource for finding information about ongoing research studies and clinical trials related to A-T. These studies may be investigating new treatments, genetic testing methods, or other aspects of the condition.

Advocacy and support organizations, such as the Ataxia-Telangiectasia Children’s Project, can also provide information and resources for individuals and families affected by A-T. These organizations often have patient and family support programs, educational materials, and information on available treatments and therapies.

Other Names for This Condition

Ataxia-telangiectasia (A-T) is a rare genetic condition that affects multiple systems of the body. It is also known by several other names:

  • Ataxia-telangiectasia syndrome
  • A-T
  • A-T syndrome
  • A-T complex
  • A-T mutated
  • A-T, ATM-related
  • Atm deficiency
  • ATM mutation
  • ATM, altered function
  • Ataxia teleangiectasia

These names are used to describe the same condition, which is characterized by problems with movement, balance, coordination, and the immune system. Ataxia-telangiectasia is caused by mutations in the ATM gene and is inherited in an autosomal recessive manner.

Research on ataxia-telangiectasia is ongoing, with scientific studies and clinical trials being conducted to learn more about the condition, its causes, and potential treatments. Information about these studies can be found on websites such as PubMed, OMIM, and ClinicalTrials.gov.

Patient advocacy groups and support center also provide additional resources and information about ataxia-telangiectasia, genetic testing, and support for individuals and families affected by the condition. They can help connect individuals with healthcare providers and researchers specializing in ataxia-telangiectasia.

Additional Information Resources

Here are some additional resources for further information about Ataxia-telangiectasia:

  • Autosomal Recessive Inheritance: Ataxia-telangiectasia is an autosomal recessive genetic condition. This means that both copies of the gene responsible for the condition must be altered in order for an individual to be affected.
  • Rare Disease: Ataxia-telangiectasia is a rare disease, with a frequency of about 1 in 40,000 to 1 in 100,000 individuals.
  • Ataxia-telangiectasia Patient Support: Patient advocacy groups and support systems exist to provide information, resources, and support for individuals and families affected by Ataxia-telangiectasia.
  • Genetic Testing: Genetic testing can help in the diagnosis of Ataxia-telangiectasia. It can also be used for carrier testing in individuals without symptoms but with a family history of the condition.
  • Scientific Articles and Studies: PubMed is a valuable resource for finding scientific articles and studies about Ataxia-telangiectasia. It provides access to a wide range of information on the condition, including research on its causes, genetic alterations, clinical trials, and treatment options.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive source of genetic information, including information on Ataxia-telangiectasia.
  • Clinical Trials: ClinicalTrials.gov is a database that provides information on ongoing clinical trials for different diseases, including Ataxia-telangiectasia. It can be helpful for individuals who are interested in participating in research studies or exploring new treatment options.
  • Ataxia-telangiectasia Control Center: The Ataxia-telangiectasia Control Center is a central resource for learning about the condition. It offers information on symptoms, diagnosis, treatment, and management strategies.

By utilizing these resources, individuals and families affected by Ataxia-telangiectasia can gain a better understanding of the condition and find support and assistance.

Genetic Testing Information

Genetic testing is a valuable tool for individuals with ataxia-telangiectasia and their families. It can help to confirm a diagnosis, provide information about the frequency of altered genes in the population, and offer guidance on inheritance patterns.

Genetic testing for ataxia-telangiectasia is available from several sources, including clinical laboratories and research studies. The information obtained from testing can help patients and their families learn more about the condition and make informed decisions about treatment options and family planning.

Genetic testing can provide information about the specific genes that are altered in ataxia-telangiectasia. The most common gene associated with this condition is called ATM (ataxia-telangiectasia mutated). Testing can determine whether a patient has alterations in the ATM gene and help to identify other rare genes that may also be involved in causing the condition.

Studies have shown that ataxia-telangiectasia is a rare genetic condition, with an estimated frequency of 1 in 40,000 to 1 in 100,000 births. The condition follows an autosomal recessive pattern of inheritance, which means that individuals with ataxia-telangiectasia inherit altered genes from both parents, who are carriers of the condition.

Genetic testing can provide patients and their families with valuable support and resources. There are advocacy organizations and support groups that can provide information about ataxia-telangiectasia, including genetic testing centers and clinical trials. Additional information can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and ClinicalTrials.gov (a central catalog of clinical trials and research studies).

Genetic testing can also help to identify potential treatments and therapies for ataxia-telangiectasia. By understanding the genetic basis of the condition, researchers can develop targeted therapies that may alleviate symptoms and improve quality of life for patients. Testing can also help identify associated conditions and systems that may be affected by ataxia-telangiectasia.

Genetic testing can provide specific gene names and references that can be useful for individuals seeking additional information about ataxia-telangiectasia. These references may include articles, research studies, and scientific resources that provide in-depth information about the condition, its causes, and potential treatments.

Genetic testing can also identify carriers of ataxia-telangiectasia. This information can be valuable for individuals who are considering starting a family and want to understand the risk of passing on the condition to their children. Testing can help individuals make informed decisions about family planning and seek appropriate support and resources.

Overall, genetic testing for ataxia-telangiectasia provides important information that helps patients and their families understand the condition, its inheritance patterns, and potential treatments. It can help guide decision-making and provide support for individuals affected by this rare genetic disease.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource that helps individuals and families learn about genetic and rare diseases, including Ataxia-telangiectasia. GARD provides information on the causes, frequency, inheritance, and clinical features of the condition. GARD also offers resources for patient support, advocacy, and research.

For individuals and families affected by Ataxia-telangiectasia, GARD offers a comprehensive collection of articles, references, and information on the genetic alterations associated with the condition. The GARD catalog includes scientific publications from PubMed and OMIM, as well as additional resources from other genetic and rare diseases databases.

GARD can also assist with finding clinical trials and research studies on Ataxia-telangiectasia. ClinicalTrials.gov, a database of clinical trials, provides information on trials that are currently recruiting participants and studying new treatments for Ataxia-telangiectasia.

In addition to providing information and resources, GARD offers genetic testing information for Ataxia-telangiectasia. Genetic testing can help identify carriers, diagnose the condition, and provide more accurate information about the genetic alterations associated with Ataxia-telangiectasia.

GARD supports individuals and families affected by Ataxia-telangiectasia by providing access to patient advocacy organizations, which can offer support, resources, and connections to other individuals and families with the condition. GARD also offers information on support services, including clinical trials, research studies, and treatment options.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by Ataxia-telangiectasia, providing them with information, resources, and support to help them better understand and navigate the condition.

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Patient Support and Advocacy Resources

Ataxia-telangiectasia (A-T) is a genetic condition that affects multiple systems in the body. For patients and families dealing with the challenges of A-T, there are various support and advocacy resources available.

Genetic Information

For more information about the genetic aspects of A-T, there are several resources available. The Genetic and Rare Diseases Information Center (GARD) provides information on A-T, including its inheritance pattern and altered genes. OMIM (Online Mendelian Inheritance in Man) is another valuable resource that lists the genes associated with A-T. PubMed Central is a database that contains scientific articles and studies related to A-T.

Patient Support

A-T Patient Centers are dedicated to providing support, resources, and information for patients and their families. These centers can help patients navigate their journey with A-T and connect them with other individuals or families who understand their challenges. Additionally, support groups and online communities are available where patients and families can share their experiences and seek advice.

Advocacy and Awareness

Advocacy organizations play a crucial role in raising awareness about A-T and advocating for research and policy changes. These organizations work to support and empower patients, provide educational materials, and raise funds for research. They also collaborate with other rare disease organizations to amplify their collective efforts.

Testing and Clinical Trials

Genetic testing can provide valuable information about the genetic changes associated with A-T. This testing can help confirm a diagnosis, provide information about inheritance patterns, and offer predictive testing for carriers. ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials and studies related to A-T. These trials can offer access to experimental treatments and contribute to scientific knowledge about the condition.

Additional Resources

There are numerous additional resources available for patients and families affected by A-T. These include websites, books, and publications that provide more information about the condition, its symptoms, and available treatments. It’s important to stay informed and connected to the latest advancements in A-T research and treatment options.

By utilizing the patient support and advocacy resources available, individuals and families living with A-T can find the help they need and contribute to advancing research and improving the lives of those affected by this condition.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a valuable resource for finding information about research studies on Ataxia-telangiectasia (A-T) and other rare genetic conditions. By conducting genetic testing and additional research, scientists aim to learn more about the causes, frequency, and associated problems of A-T.

One of the main goals of research studies is to identify the genes and altered gene systems that are responsible for A-T. Several genes have been associated with this condition, and learning more about their role can help improve diagnosis and develop targeted treatments.

ClinicalTrials.gov also supports the identification of carriers of the A-T gene, who may be at risk of having children with the condition. By testing and studying carriers, researchers can gather more information about inheritance patterns and provide valuable counseling and support.

Research studies mentioned on ClinicalTrials.gov aim to find effective treatments and interventions for A-T patients. By studying the effectiveness of different treatments and therapies, scientists hope to improve the quality of life for individuals with A-T and reduce the impact of the condition on their daily lives.

Additionally, ClinicalTrials.gov catalogs articles and references from PubMed, a scientific database, that provide further information on A-T. These resources can be used by scientists, researchers, and healthcare providers to stay up-to-date with the latest research findings and better understand the condition.

In conclusion, research studies on Ataxia-telangiectasia from ClinicalTrials.gov provide valuable information about the genetic causes, clinical implications, and potential treatments for this rare condition. Scientists and healthcare providers can use this information to support patient care, genetic testing, and further scientific research.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information on the inheritance patterns, clinical manifestations, and other essential details related to genetic conditions. This catalog helps researchers, clinicians, and patients to learn more about rare diseases including Ataxia-telangiectasia.

Ataxia-telangiectasia is a rare genetic condition that affects various systems of the body. It is inherited in an autosomal recessive manner, which means that individuals need to inherit two altered copies of the responsible gene – ATM – one from each parent.

ATM gene is responsible for producing a protein that plays a crucial role in repairing damaged DNA. When this gene is altered, it leads to problems in DNA repair and causes the manifestation of Ataxia-telangiectasia.

Clinical manifestations of Ataxia-telangiectasia include progressive problems with balance and coordination (ataxia) as well as the presence of small, spider-like blood vessels (telangiectasias) on the skin and mucous membranes.

Genetic testing is helpful in confirming the diagnosis of Ataxia-telangiectasia. It involves analyzing the ATM gene for any alterations. Additionally, research studies and clinical trials (ClinicalTrials.gov) are also conducted to learn more about the causes, frequency, and management of this condition.

OMIM provides more information about Ataxia-telangiectasia, including references to scientific articles and other resources for support and advocacy. It is an invaluable tool for individuals and healthcare professionals seeking further knowledge about this rare genetic disease.

References: OMIM, PubMed, ClinicalTrials.gov

Scientific Articles on PubMed

Ataxia-telangiectasia is a rare genetic condition that affects multiple systems in the body. It is associated with problems in coordination and balance, as well as the development of small, spider-like blood vessels on the skin and mucus membranes. This condition is also sometimes called Louis-Bar syndrome or AT.

Research on ataxia-telangiectasia helps us learn more about its causes and associated problems. PubMed is a catalog of scientific articles and research studies that provides valuable information on this condition and its inheritance patterns.

  • Genetic testing is central to the diagnosis of ataxia-telangiectasia. Testing can help identify alterations in the ATM gene, which is commonly associated with this condition.
  • Carrier testing is also available for individuals who may be at risk of passing the altered gene to their children.
  • Scientific articles on PubMed provide information about the frequency of ataxia-telangiectasia, as well as the clinical features and possible treatments.
  • Additional resources, including OMIM and clinicaltrialsgov, offer more in-depth information about ataxia-telangiectasia and ongoing research studies.

Advocacy and support centers, such as the Ataxia-Telangiectasia Children’s Project, provide valuable information on the condition and resources for patients and their families.

References:

  1. OMIM: Ataxia-Telangiectasia
  2. PubMed: Scientific Articles on Ataxia-Telangiectasia
  3. ClinicalTrials.gov: Clinical Trials on Ataxia-Telangiectasia

References

Below is a list of resources and references for more information about Ataxia-telangiectasia:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic causes of diseases, including Ataxia-telangiectasia. You can access the OMIM entry for Ataxia-telangiectasia at https://www.omim.org/entry/208900.
  • PubMed: PubMed is a database of scientific articles and studies. You can find additional information and research studies about Ataxia-telangiectasia on PubMed at https://pubmed.ncbi.nlm.nih.gov/?term=Ataxia-telangiectasia.
  • GeneReviews: The GeneReviews database provides clinical information about various genetic diseases. You can find a comprehensive overview of Ataxia-telangiectasia on GeneReviews at https://www.ncbi.nlm.nih.gov/books/NBK26468/.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials. You can find information about ongoing clinical trials for Ataxia-telangiectasia on ClinicalTrials.gov at https://clinicaltrials.gov/ct2/results?cond=ataxia-telangiectasia.
  • Ataxia-Telangiectasia Children’s Project: The Ataxia-Telangiectasia Children’s Project is a non-profit organization that provides support and resources for patients and families affected by Ataxia-telangiectasia. You can learn more about their advocacy efforts and find additional information on their website at http://www.atcp.org/.
  • Ataxia-telangiectasia Clinical Center: The Ataxia-telangiectasia Clinical Center at Johns Hopkins University provides comprehensive clinical care for individuals with Ataxia-telangiectasia. You can find more information about their services and research initiatives on their website at https://www.hopkinsallchildrens.org/Services/Ataxia-Telangiectasia-Clinical-Center.

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