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Friedreich ataxia is a rare autosomal recessive genetic disease that causes progressive damage to the nervous system. It is named after Nikolaus Friedreich, the German physician who first described the condition in the 1860s. The disease primarily affects the coordination of movements, leading to problems with balance and coordination.

Individuals with Friedreich ataxia may also experience symptoms such as muscle weakness, fatigue, and difficulty speaking. In addition to these physical symptoms, the condition can also lead to heart problems, including an enlarged heart and arrhythmias.

There is currently no cure for Friedreich ataxia, but there are treatment options available to manage the symptoms and slow down the progression of the disease. Physical therapy and assistive devices can help improve mobility and function, while medications can help control symptoms such as heart problems.

The inheritance pattern of Friedreich ataxia means that each child of two carriers has a 25% chance of developing the condition. There are also other rare genetic diseases that can cause ataxia, so genetic testing is necessary to make a definitive diagnosis.

For patients and their families, advocacy groups and support organizations such as the Friedreich’s Ataxia Research Alliance (FARA) provide additional support, resources, and information. ClinicalTrials.gov is a valuable resource for learning about ongoing research studies and clinical trials related to Friedreich ataxia.

References to scientific articles and research studies about Friedreich ataxia can be found in scientific databases such as PubMed and OMIM, as well as through the National Ataxia Foundation and other rare disease resources. These sources can provide more information about the causes, symptoms, and progression of the condition.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

Frequency

Friedreich ataxia is a rare genetic condition. According to scientific articles and references from OMIM (Online Mendelian Inheritance in Man), this condition is associated with mutations in the FXN gene.

The frequency of Friedreich ataxia varies in different populations. It is estimated to affect approximately 1 in 40,000 to 1 in 50,000 individuals in most populations. However, the frequency may be higher in specific populations, such as those of North African or Portuguese descent.

To learn more about the frequency of Friedreich ataxia and associated diseases, genetic testing is often recommended. Testing can be done to identify the specific mutations in the FXN gene that are responsible for the condition. This information can help in understanding the inheritance pattern, prognosis, and potential treatment options.

Additional resources for information on Friedreich ataxia and related research, clinical trials, and support can be found at the Friedreich’s Ataxia Research Alliance (FARA) website, National Ataxia Foundation, and the National Center for Biotechnology Information’s PubMed database.

References:

  • Delatycki MB, Williamson R, Forrest SM. Friedreich ataxia: an overview. J Med Genet. 2000;37(1):1-8. PubMed PMID: 10633129
  • Anheim M, Mariani LL, Calvas P, Cheuret E, Zagnoli F, Odent S, et al. Exonic deletions of FXN and early-onset Friedreich ataxia. Arch Neurol. 2012;69(7):912-6. PubMed PMID: 22393003
  • OMIM Entry – #229300 – Friedreich Ataxia. OMIM website. https://www.omim.org/entry/229300

Causes

Friedreich ataxia (FRDA) is a rare genetic disease associated with progressive neurological symptoms. It is caused by mutations in a gene called frataxin (FXN), which is located on chromosome 9. FRDA is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene – one from each parent – to develop the condition.

The frataxin gene provides instructions for producing a protein called frataxin, which is involved in the mitochondria – the powerhouses of the cell – and is important for the production of energy. In FRDA, the mutations in the frataxin gene lead to a decrease in frataxin levels, which in turn results in mitochondrial dysfunction and subsequent cell damage.

Although frataxin gene mutations are the primary cause of FRDA, researchers believe that additional factors may influence the severity and progression of the disease. Studies have identified other genes that may modify the clinical presentation of FRDA, including those involved in DNA repair, iron metabolism, and oxidative stress.

To learn more about the causes of FRDA and the associated genetic factors, individuals can access resources such as scientific articles, clinical trials databases (such as clinicaltrials.gov), and genetic inheritance catalogs (such as OMIM). These sources provide information about ongoing research, genetic testing, and the latest advancements in understanding the disease.

FRDA primarily affects the coordination and balance of individuals, leading to progressive ataxia symptoms such as muscle weakness, impaired speech, and coordination difficulties. However, it is important to note that FRDA can also affect other systems in the body, including the heart.

In addition to genetic causes, researchers are also investigating other potential factors that may contribute to the development and progression of FRDA. These include environmental factors, epigenetic modifications, and lifestyle factors. Further research is needed to fully understand the complex interplay of these factors and their role in the disease.

Progress in FRDA research is dependent on a collaborative effort between scientists, patients, and advocacy organizations. By supporting and participating in scientific studies and clinical trials, individuals and their families can contribute to advancing our understanding of the disease and potential treatment options.

  • For more information about FRDA causes and research, individuals can refer to the following resources:
    • OMIM (Online Mendelian Inheritance in Man) for genetic information and associated gene names
    • PubMed for scientific articles and references
    • Center for Information and Study on Clinical Research Participation (CISCRP) for information about participating in clinical trials
  • Additionally, there are several advocacy organizations that provide support, resources, and information for individuals and families affected by FRDA:
    • Friedreich Ataxia Research Alliance (FARA)
    • Friedreich’s Ataxia Foundation (FAF)
    • International Rare Diseases Research Consortium (IRDiRC)
See also  SERPINA6 gene

Learn more about the gene associated with Friedreich ataxia

Friedreich ataxia is a rare genetic condition that affects coordination and causes progressive symptoms such as muscle weakness and heart problems. The gene associated with Friedreich ataxia is called frataxin, and it plays a crucial role in the normal functioning of cells.

People with Friedreich ataxia inherit a mutated frataxin gene from both parents. This condition follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene to develop the disorder.

The frataxin gene is located on chromosome 9, and mutations in this gene lead to a reduced production of frataxin protein. Frataxin is involved in the formation of iron-sulfur clusters, which are essential for the function of several enzymes involved in energy production and antioxidant defense.

Research on the frataxin gene and Friedreich ataxia has led to a better understanding of the condition and the development of potential treatments. Scientists have found that increasing frataxin levels can help improve mitochondrial function and reduce oxidative stress in cells.

Genetic testing is available for Friedreich ataxia, and it can help confirm a diagnosis or identify individuals who carry a mutation in the frataxin gene. This information is crucial for family planning and determining the risk of having a child with Friedreich ataxia.

There are various resources and support available for individuals with Friedreich ataxia and their families. Organizations and advocacy groups provide information, support groups, and funding for research and clinical trials. ClinicalTrials.gov is a valuable resource for finding ongoing clinical trials for Friedreich ataxia.

Additional information about the frataxin gene and Friedreich ataxia can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide comprehensive information on the genetic causes, clinical features, and progression of Friedreich ataxia.

Learning more about the frataxin gene and Friedreich ataxia can help individuals and their families understand the condition and the available resources for support and treatment. Expanding knowledge about this gene and the associated disease can contribute to advances in research and the development of new therapies for Friedreich ataxia.

Inheritance

Friedreich ataxia (FRDA) is a rare genetic disorder that is inherited in an autosomal recessive manner. This means that the condition is caused by mutations in both copies of the frataxin (FXN) gene, which is responsible for producing a protein called frataxin. Individuals with only one mutated copy of the FXN gene are carriers of the condition and typically do not experience any symptoms.

In order to determine if an individual is a carrier of Friedreich ataxia or has the condition, genetic testing can be performed. This involves analyzing the DNA of the individual to identify any mutations in the FXN gene. Genetic testing can also be used to diagnose individuals who are showing symptoms of the condition but have not yet received a definitive diagnosis.

For individuals who have been diagnosed with Friedreich ataxia, genetic testing can also be useful in determining the severity of the condition and predicting the likelihood of certain symptoms or complications. It can also provide important information for family planning and the possibility of passing the condition on to future generations.

There are several resources available to individuals and families affected by Friedreich ataxia. These include support groups, advocacy organizations, and research centers that specialize in the condition. ClinicalTrials.gov is a valuable resource for finding ongoing clinical trials and studies related to Friedreich ataxia. Additionally, websites such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center (GARD) provide additional information about Friedreich ataxia, including symptoms, inheritance patterns, and the latest research.

In rare cases, Friedreich ataxia can be associated with other genetic diseases or conditions. It is important for individuals with Friedreich ataxia to discuss their specific case with their healthcare provider to determine if additional genetic testing is warranted.

Genetic research on Friedreich’s ataxia continues to progress, with scientists working to uncover more about the causes and underlying mechanisms of the condition. This research could potentially lead to new treatments or interventions to slow the progression of the disease and improve the quality of life for individuals with Friedreich ataxia.

References:

  • “Friedreich Ataxia.” Genetic and Rare Diseases Information Center, GARD, 18 Aug. 2016, rarediseases.info.nih.gov/diseases/29/friedreichs-ataxia.
  • “Friedreich Ataxia.” OMIM, Johns Hopkins University, www.omim.org/entry/229300.
  • “Friedreich Ataxia.” PubMed, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/?term=Friedreich+Ataxia.
  • “Friedreich Ataxia.” ClinicalTrials.gov, U.S. National Library of Medicine, clinicaltrials.gov/ct2/results?cond=Friedreich+Ataxia&term=&cntry=&state=&city=&dist=.

Other Names for This Condition

  • Friedreich ataxia
  • FRDA
  • FA
  • Ataxia, Friedreich

Friedreich ataxia, also known as FRDA or FA, is a rare genetic condition that affects the coordination and progress of movement. It is classified as an autosomal recessive condition, meaning that individuals must inherit two copies of the mutated gene in order to develop the disease.

The gene associated with Friedreich ataxia is called frataxin, and mutations in this gene cause the production of an abnormal form of the frataxin protein. The rare genetic disorder is characterized by a range of symptoms, including progressive impairment of coordination and balance, muscle weakness, and heart problems.

Resources Description
ClinicalTrials.gov A database of clinical trials testing potential treatments for Friedreich ataxia. Individuals can learn more about ongoing clinical trials and find information on how to participate.
OMIM A comprehensive catalog of human genes and genetic disorders. OMIM provides additional information on the genetic causes and inheritance of Friedreich ataxia.
PubMed A database of scientific articles on a wide range of topics, including research on Friedreich ataxia. PubMed can be used to find more information on the symptoms, causes, and progress of the condition.
National Ataxia Foundation A patient advocacy and support organization for individuals with ataxia and their families. The foundation provides resources and support for those affected by Friedreich ataxia.
Genetic and Rare Diseases Information Center A centralized source of information on rare diseases. The center offers information on the frequency, symptoms, and genetic causes of Friedreich ataxia.

For more information about Friedreich ataxia and to learn about ongoing research and progress in the field, individuals can refer to the resources listed above. These resources offer a wealth of information on the condition, its symptoms, testing options, and available support and advocacy initiatives.

See also  DPYD gene

Additional Information Resources

To learn more about Friedreich ataxia, you can refer to the following resources:

  • Genetic Testing: Genetic testing can confirm a diagnosis of Friedreich ataxia. Visit the Genetic Testing Registry (GTR) for more information on genetic tests associated with this condition.
  • Other Genes: Explore other genes associated with Friedreich ataxia on the OMIM (Online Mendelian Inheritance in Man) database.
  • PubMed: The PubMed database provides access to scientific articles, research studies, and more on Friedreich ataxia.
  • ClinicalTrials.gov: ClinicalTrials.gov lists ongoing and completed clinical trials related to Friedreich ataxia. This can be a valuable resource to learn about the latest research and treatment options.
  • Advocacy Organizations: There are several advocacy organizations that provide support and resources for individuals and families affected by Friedreich ataxia, such as the Friedreich’s Ataxia Research Alliance (FARA) and the National Ataxia Foundation (NAF).
  • Patient Support: Connect with other individuals living with Friedreich ataxia through online support groups and forums.
  • References: Explore references cited in scientific articles and research studies to dig deeper into the causes, symptoms, and inheritance patterns of Friedreich ataxia.

These resources offer a wealth of information and support for those affected by this rare genetic condition. Take advantage of these free resources to increase your understanding of Friedreich ataxia.

Genetic Testing Information

Genetic testing for Friedreich ataxia can provide valuable information for patients and their families. This testing is used to confirm a diagnosis, identify carriers, and provide information about the progression and symptoms associated with the condition. There are also research studies and clinical trials that aim to find new treatments and improve the quality of life for those affected by Friedreich ataxia.

Here are some resources where you can learn more about genetic testing and Friedreich ataxia:

  • PubMed: A database of scientific articles with information on genetic studies and advances in Friedreich ataxia research. You can search for specific topics and find references to relevant studies.
  • ClinicalTrials.gov: A registry of clinical trials investigating new treatments and interventions for Friedreich ataxia. You can find information about ongoing trials as well as the eligibility criteria for participating.
  • OMIM: An online catalog of human genes and genetic disorders. This database provides information about the genetic causes of Friedreich ataxia and other related diseases.
  • Friedreich Ataxia Research Alliance (FARA): An advocacy and support organization for individuals and families affected by Friedreich ataxia. FARA provides resources, information, and support for those navigating the challenges of living with this rare genetic condition.

Genetic testing for Friedreich ataxia typically involves analyzing the FXN gene, which is responsible for producing a protein called frataxin. Mutations in this gene lead to a deficiency of frataxin, causing the symptoms of Friedreich ataxia. Testing can be done through a blood sample or using other genetic testing methods.

It is important to keep in mind that genetic testing can have implications for family members and future generations. Since Friedreich ataxia follows an autosomal recessive inheritance pattern, it is possible for individuals to be carriers of the condition without showing any symptoms. Genetic counseling may be recommended to help individuals understand the implications of genetic testing results and make informed decisions about their health.

Overall, genetic testing offers valuable information on the diagnosis, inheritance pattern, and genetic causes of Friedreich ataxia. It can support clinical management, guide treatment decisions, and contribute to ongoing research efforts aimed at finding new therapies for this progressive neurodegenerative disorder.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program within the National Center for Advancing Translational Sciences (NCATS) that provides reliable and free information about genetic and rare diseases. GARD works to improve the understanding and coordination of research activities related to rare diseases.

GARD maintains a comprehensive and frequently updated online catalog of information on rare diseases and their associated symptoms, genes, and inheritance patterns. This catalog, known as the Online Mendelian Inheritance in Man (OMIM), provides a valuable resource for healthcare professionals, researchers, and patients to learn more about rare diseases, such as Friedreich ataxia.

Friedreich ataxia is an autosomal recessive genetic condition that affects the coordination of movement. It is caused by mutations in the FXN gene. Individuals with Friedreich ataxia may experience symptoms such as progressive muscle weakness, loss of coordination, and heart problems.

GARD provides additional information about Friedreich ataxia, including references to scientific studies, advocacy organizations, and patient support groups. These resources can help individuals and families affected by the condition to stay informed about the latest research progress, available testing options, and clinical trials.

ClinicalTrials.gov, a database of clinical studies, can also be accessed through GARD. This database allows individuals to search for ongoing clinical trials related to Friedreich ataxia and other rare diseases.

Learn more about Friedreich ataxia and other rare diseases through GARD’s collection of articles, available for free on their website. GARD aims to support patients and their families by providing reliable and up-to-date information on the causes, symptoms, and management of rare diseases.

Visit GARD’s website to find out more about Friedreich ataxia and other genetic and rare diseases, and to access the resources and support they provide.

Patient Support and Advocacy Resources

Patients with Friedreich ataxia and their families can find support and advocacy resources to help cope with this rare genetic condition. These resources provide information about the disease, its causes, symptoms, and genetic inheritance. They also offer additional resources such as patient support groups and research studies.

Support Groups and Organizations:

  • National Ataxia Foundation – The National Ataxia Foundation offers support and resources for patients with ataxia. They provide educational materials, connect patients and families, and fund research studies.
  • Friedreich’s Ataxia Research Alliance (FARA) – FARA is a non-profit organization that supports research and drug development efforts for Friedreich ataxia. They provide information, advocacy resources, and funding opportunities.

Information and Research Studies:

  • PubMed – PubMed is a database of scientific articles in the field of medicine. It provides access to research studies, clinical trials, and references related to Friedreich ataxia.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic conditions. It provides information about associated genes, inheritance patterns, and clinical features of Friedreich ataxia.
  • ClinicalTrials.gov – ClinicalTrials.gov provides information about ongoing clinical trials for Friedreich ataxia. Patients can learn about available studies, eligibility criteria, and contact information for participating centers.
See also  Prostate cancer

Genetic Testing and Counseling:

  • GeneTests – GeneTests is a resource for genetic testing information. It provides a directory of laboratories that offer testing for Friedreich ataxia and other genetic conditions.
  • Genetic Testing Registry (GTR) – GTR provides information about genetic tests and their availability. Patients can find testing laboratories and learn about the specific tests used for Friedreich ataxia.

By accessing these patient support and advocacy resources, individuals with Friedreich ataxia can find information, connect with others, and stay updated on research progress. These resources can help improve the quality of life for patients and their families.

Research Studies from ClinicalTrials.gov

Research studies on Friedreich ataxia are underway to further understand the causes, symptoms, and progression of this rare genetic condition. These studies aim to support patients with Friedreich ataxia and provide additional resources for testing, coordination, and advocacy.

One study from ClinicalTrials.gov focuses on the autosomal recessive inheritance pattern of Friedreich ataxia. The aim of this study is to learn more about the genetic factors and genes associated with the condition, as well as the frequency of the disease within families.

Another study seeks to understand the impact of Friedreich ataxia on the heart. It aims to explore the progress of heart diseases associated with this condition and gather more information about potential treatment options.

Scientific articles and research studies from PubMed and OMIM are available on ClinicalTrials.gov to provide more information about Friedreich ataxia and related genes. These resources offer a catalog of articles with names, references, and other useful information.

Patient support and advocacy center around ClinicalTrials.gov provide free resources for individuals and families affected by Friedreich ataxia. These resources include information on genetic testing, symptoms, and other rare diseases associated with Friedreich ataxia.

Overall, the research studies on Friedreich ataxia from ClinicalTrials.gov aim to advance our understanding of this rare condition and provide better support and resources for patients and their families.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive database of genetic conditions, including Friedreich ataxia. Friedreich ataxia is a rare genetic condition that causes progressive damage to the nervous system, leading to symptoms such as coordination difficulties, heart problems, and other associated symptoms.

OMIM, or Online Mendelian Inheritance in Man, is a free, comprehensive resource that provides information about genetic conditions and the genes associated with them. It contains detailed information on the genetic basis, inheritance patterns, clinical symptoms, and more for a wide range of rare genetic diseases, including Friedreich ataxia.

The Catalog of Genes and Diseases from OMIM allows individuals and healthcare professionals to easily access and learn about the latest scientific research, clinical trials, and other relevant articles on Friedreich ataxia. The database includes references to research articles from PubMed and clinical trial information from ClinicalTrials.gov, providing comprehensive resources for understanding and managing this condition.

Within the catalog, each gene associated with Friedreich ataxia is listed, along with additional information such as gene frequency, inheritance pattern, and known mutations. This information is valuable for genetic testing and diagnosis, as well as for research and advocacy efforts.

Patients and their families can use the Catalog of Genes and Diseases from OMIM to learn more about Friedreich ataxia, its causes, symptoms, and available support and resources. The database also provides contact information for patient advocacy groups and research centers specializing in Friedreich ataxia.

By providing a comprehensive catalog of genes and diseases, OMIM contributes to the progress of scientific research and understanding of genetic conditions like Friedreich ataxia. It serves as a valuable tool for researchers, healthcare professionals, and individuals seeking information and support related to this rare genetic condition.

Scientific Articles on PubMed

Friedreich ataxia is a rare autosomal recessive condition that causes progressive loss of coordination and other symptoms. The research on this condition has resulted in a significant progress in understanding its causes, inheritance patterns, and associated genes.

PubMed is a valuable resource for finding scientific articles and research studies related to Friedreich ataxia. It provides access to a wide range of information, including clinical trials, genetic testing, and more. Here are some key references and resources available on PubMed:

  1. OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. OMIM provides detailed information about Friedreich ataxia and its associated genes.
  2. Scientific Articles: PubMed contains numerous scientific articles on Friedreich ataxia. These articles cover various aspects of the condition, including its clinical features, genetic mechanisms, and potential treatment options. They offer a wealth of information for researchers, healthcare professionals, and patients.
  3. ClinicalTrials.gov: This resource provides information about ongoing clinical trials related to Friedreich ataxia. It includes details about the aims, eligibility criteria, and locations of the trials. Patients and their families can find information about potential research opportunities and new treatment options through this platform.
  4. Support and Advocacy: Friedreich ataxia organizations and support groups can be found through PubMed. These groups offer resources, support, and advocacy for patients and their families. They play a crucial role in raising awareness about the condition and funding research initiatives.

By exploring the articles and resources available on PubMed, researchers and healthcare professionals can learn more about Friedreich ataxia and contribute to the scientific progress in this field. The information obtained from these sources can help improve patient care, develop new treatment strategies, and enhance our understanding of rare diseases like Friedreich ataxia.

References

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