Erythromelalgia is a rare and debilitating disease that affects the peripheral nervous system. More specifically, it is a genetic disorder that is caused by mutations in certain genes, such as NAV1.7. This gene is responsible for encoding a sodium channel in the neurons and plays an important role in transmitting pain signals to the brain.

People with erythromelalgia experience intense burning pain, redness, and warmth in their feet or hands, often triggered by warm temperatures or physical activity. Wearing shoes or even just socks can exacerbate the symptoms. The condition can greatly impact the quality of life, making it difficult for patients to engage in everyday activities.

Research on erythromelalgia is still ongoing, and scientific studies are being conducted to better understand the causes and mechanisms of the disease. Genetic testing can be performed to identify the specific mutations in the associated genes, which can provide valuable information for diagnosis and personalized treatment.

For patients and their families, advocacy and support groups can be a valuable resource to learn more about erythromelalgia. ClinicalTrials.gov provides information about ongoing clinical studies and trials related to the disease. Additionally, scientific articles and publications in PubMed and OMIM can offer further information on the condition and its inheritance patterns.

One of the major challenges in managing erythromelalgia is the lack of effective treatment options. However, there are some measures that can help alleviate symptoms, such as avoiding triggers, practicing cooling techniques, and taking medications to reduce pain and inflammation. It is important for patients to work closely with their healthcare providers to find the most suitable treatment approach.

In conclusion, erythromelalgia is a rare and complex condition that is still not well understood. It is important for patients, their families, and healthcare providers to stay updated on the latest research and resources available to better manage this condition.

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Frequency

Erythromelalgia is a rare condition that is caused by rare genes. According to studies on inheritance, the frequency of erythromelalgia is about 1 in 40,000 individuals. This makes it a very rare disease. The name “erythromelalgia” comes from the Greek words “erythros” meaning red, “melos” meaning limb, and “algos” meaning pain.

Some of the known causes of erythromelalgia are mutations in the SCN9A gene, also known as the Nav1.7 gene. This gene is involved in the transmission of pain signals in the peripheral nervous system. Mutations in this gene lead to increased pain sensitivity and the characteristic symptoms of erythromelalgia.

Additional information about the frequency of erythromelalgia can be found in scientific articles and resources such as PubMed, OMIM, and clinicaltrialsgov. These resources provide citation names, references, and articles for further research on the topic. Advocacy and patient support groups also provide information on the frequency of the disease and support for patients.

Clinical testing is available for detecting mutations in the SCN9A gene. This testing can help diagnose erythromelalgia and determine the genetic inheritance of the disease in a patient. Wearing appropriate shoes and avoiding triggers such as heat and exercise can help manage the symptoms of erythromelalgia.

References
Resource Description
PubMed A database of scientific articles
OMIM An online catalog of human genes and genetic disorders
clinicaltrialsgov A registry of clinical trials

Causes

Erythromelalgia is a rare condition that is associated with genetic mutations. Research studies have identified several genes that are involved in the development of erythromelalgia, including the SCN9A gene and the NAV1.7 gene. These genes play a role in the peripheral nervous system, which is responsible for transmitting signals between the brain and the rest of the body.

The frequency of these genetic mutations in the general population is low, making erythromelalgia a rare disease. However, for those who inherit these genetic mutations, the risk of developing erythromelalgia is much higher.

It is important to note that not all cases of erythromelalgia are caused by genetic mutations. Other factors, such as wearing tight shoes or certain medications, can trigger symptoms in some patients.

There is ongoing research and scientific studies to learn more about the causes of erythromelalgia. Genetic testing can be done to identify the specific gene mutations associated with this condition. This testing is often done in specialized research centers or genetic testing centers.

Patient advocacy groups, such as the Erythromelalgia Association, provide information and resources about the condition, including inheritance patterns and other genetic diseases associated with erythromelalgia.

For more information about the causes of erythromelalgia, you can visit the following resources:

In conclusion, the causes of erythromelalgia are primarily genetic, with mutations in certain genes such as SCN9A and NAV1.7. However, other factors such as wearing tight shoes or certain medications can also trigger symptoms in some patients.

Learn more about the gene associated with Erythromelalgia

Erythromelalgia is a rare condition characterized by episodes of severe burning pain, redness, and heat in the hands and feet. This painful disease is caused by mutations in the gene SCN9A, also known as Nav1.7.

See also  Genetic Conditions N

Nav1.7 is a sodium channel gene that plays a crucial role in the transmission of pain signals in the peripheral nervous system. Mutations in this gene can lead to the overactivity of sensory neurons, resulting in the symptoms seen in erythromelalgia patients.

Research on the SCN9A gene has provided valuable insights into the genetic and molecular causes of erythromelalgia. Scientists have identified specific mutations in SCN9A that are associated with the condition, allowing for better diagnosis and targeted therapies.

Nav1.7 gene testing can be performed to confirm the presence of mutations in individuals suspected to have erythromelalgia. This genetic testing can help patients and healthcare providers better understand and manage the condition.

In addition to SCN9A, other genes have also been found to be associated with erythromelalgia. However, SCN9A mutations are considered the most common genetic cause of this condition.

Information about the gene SCN9A and its association with erythromelalgia can be found in various resources and databases. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders and provides detailed information on the SCN9A gene and erythromelalgia. PubMed, a database of scientific articles, also contains numerous studies and citations related to this gene and its association with erythromelalgia.

The Erythromelalgia Association is a patient advocacy and support center that provides information and resources for individuals with erythromelalgia. Their website is a valuable source of information on the genetic, clinical, and research aspects of this condition.

Additionally, clinicaltrials.gov provides information on ongoing clinical trials and research studies related to erythromelalgia and its associated genes. This resource can be helpful for patients and researchers looking for opportunities to participate in studies or access new treatments.

In conclusion, the gene SCN9A, also known as Nav1.7, is strongly associated with erythromelalgia. Understanding the role of this gene in the development and progression of the disease has shed light on its genetic and molecular causes. Further research and genetic testing can provide more insights into this rare condition and pave the way for improved diagnostics and targeted therapies.

Inheritance

Erythromelalgia can be caused by mutations in several different genes. It is often inherited, meaning that it can be passed down from parents to their children. Research has found that mutations in genes such as SCN9A, SCN10A, and SCN11A are associated with this rare condition.

Their mutations in these genes can affect the function of certain proteins, such as voltage-gated sodium channels, which are involved in the transmission of pain signals in the peripheral nerves. These mutations can cause an increase in the frequency and severity of pain episodes, as well as the characteristic symptoms of erythromelalgia, such as red and burning hands and feet.

Genetic testing can be used to identify these mutations in affected individuals. This testing can help to confirm a diagnosis of erythromelalgia and provide valuable information about the inheritance pattern of the condition within a family.

There are also other forms of erythromelalgia that are not caused by mutations in these genes. The exact causes of these forms of the condition are not yet fully understood and require further scientific research.

Clinical studies and research on erythromelalgia continue to provide more information about this condition and its genetic causes. The Online Mendelian Inheritance in Man (OMIM) database and other scientific references and resources can provide additional information about the genes associated with erythromelalgia and the inheritance patterns of the condition.

In addition, advocacy and support resources, such as the Erythromelalgia Association and ClinicalTrials.gov, can provide further support and information for patients and their families affected by this rare disease.

Other Names for This Condition

Erythromelalgia is a condition with several other names. Some of these names include:

  • Primary erythromelalgia
  • EM
  • Erythermalgia
  • Erythralgia
  • Mitchell’s disease

Each of these names refers to the same condition, which is a rare disease affecting the peripheral nervous system.

If you want to learn more about erythromelalgia, you can find additional information in scientific articles, clinical studies, and research journals. Some sources you can consult include:

  1. OMIM – a catalog of human genes and genetic disorders
  2. PubMed – a database of scientific articles and research papers
  3. ClinicalTrials.gov – a registry of clinical trials
  4. Center for Information and Study on Clinical Research Participation (CISCRP) – a resource for information about participating in clinical trials
  5. Genetic and Rare Diseases Information Center (GARD) – a source for information about rare diseases

In addition to these resources, there are also patient advocacy groups and support organizations that can provide further assistance and information.

It is important to note that the exact causes of erythromelalgia are still being studied. However, some research has suggested that mutations in certain genes may be associated with the condition. One gene that has been identified as potentially involved in erythromelalgia is the SCN9A gene, which is responsible for the production of a protein called Nav1.7. Mutations in this gene can affect the functioning of Nav1.7 and lead to the symptoms of erythromelalgia.

Further research and testing are needed to fully understand the genetic inheritance of erythromelalgia and the role of other genes in the disease.

Additional Information Resources

  • Catalog of Genes and Diseases: Learn more about the genes and associated diseases, including Erythromelalgia, at the OMIM (Online Mendelian Inheritance in Man) database.

  • Clinical Trials: Find information on clinical trials related to Erythromelalgia, their frequency, and other details at ClinicalTrials.gov.

  • Scientific Articles: Stay up-to-date with the latest research on Erythromelalgia by exploring articles available at PubMed and Neurosci.

  • Support and Advocacy: Connect with patient organizations and advocacy groups to find support, information, and resources for Erythromelalgia and other rare diseases.

  • Testing for Genetic Causes: If you suspect a genetic link to Erythromelalgia, consider genetic testing services to explore potential genes and variants associated with the condition. Consult testing laboratories and genetic counselors for more information.

  • Wearing Shoes and Feet: Discover tips and recommendations for managing Erythromelalgia symptoms related to wearing shoes and foot care. Explore various footwear options and approaches to provide relief.

  • Additional Resources: Refer to the references cited in this article and other reliable sources to learn more about the causes, clinical features, and management of Erythromelalgia.

See also  MEGDEL syndrome

Genetic Testing Information

Erythromelalgia is a rare condition that affects the feet and sometimes the hands. It is caused by genetic changes in certain genes, specifically SCN9A and SCN10A. Genetic testing can provide important information about the genes associated with this condition.

Genes such as SCN9A and SCN10A, also known as Nav1.7 and Nav1.8, play a crucial role in the regulation of peripheral nerve activity. Mutations in these genes can lead to overactivity of the nerves, causing the symptoms of erythromelalgia.

To learn more about the genes associated with erythromelalgia and their inheritance patterns, there are scientific resources available such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide articles, clinical studies, and information about the frequency, causes, and clinical presentation of the disease.

In addition to scientific resources, there are advocacy and support organizations that can provide information and resources for patients and their families. Some of these organizations include the Erythromelalgia Association, National Organization for Rare Disorders (NORD), and Genetic and Rare Diseases Information Center (GARD).

Genetic testing can be done to confirm a diagnosis of erythromelalgia and to identify any specific gene mutations. This information can be valuable for understanding the underlying cause of the condition, exploring treatment options, and participating in clinical trials.

References:

  • Catalog of Genes and Diseases (OMIM)
  • PubMed – a database of scientific articles
  • Genetic Testing Registry
  • ClinicalTrials.gov – a database of clinical studies

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information about erythromelalgia and other rare genetic diseases. GARD is a centralized resource that aggregates information from various sources to support patients, families, and advocates who are seeking information about rare diseases.

GARD offers comprehensive information about the genes associated with erythromelalgia, as well as gene testing options. This includes information on clinical trials related to the condition available on clinicaltrialsgov, research studies of this genetic disease, and additional articles available on PubMed.

GARD also provides resources on the causes and inheritance of erythromelalgia, clinical information, and supportive care options. The center offers a catalog of advocacy and support organizations for patients and their families, as well as scientific articles and references for further learning.

Through GARD, individuals can learn about the frequency of erythromelalgia and other rare genetic diseases, as well as discover other diseases associated with the same genes. In addition, GARD provides information on peripheral neurosci and other resources related to the disease.

Patients, families, and advocates can use GARD to access reliable and up-to-date information about erythromelalgia and other rare genetic diseases. The center serves as a trusted source for information, research, and support, helping individuals navigate the complexities of their conditions.

Patient Support and Advocacy Resources

Patients and their families dealing with erythromelalgia can find valuable support and advocacy resources to help them navigate this rare genetic condition. The following resources provide information, research, and community support:

  • OMIM: OMIM is a comprehensive database of human genes and genetic phenotypes that is widely used by clinicians, researchers, and patients. It provides detailed information about the genetic causes, inheritance patterns, and associated diseases of erythromelalgia.

  • PubMed: PubMed is a vast database of scientific research articles. It can be searched for clinical studies, articles, and other publications related to erythromelalgia. Patients and their families can find valuable information about the causes, clinical features, and treatment options of this condition.

  • NIH’s ClinicalTrials.gov: This website provides a comprehensive listing of clinical trials for various diseases, including erythromelalgia. Patients can explore ongoing, recruiting, or completed clinical trials to learn more about potential treatment options and medical research studies.

  • Erythromelalgia Center: The Erythromelalgia Center is a specialized center focused on research, patient care, and education related to erythromelalgia. It provides valuable information about the condition, its symptoms, diagnosis, and management options, as well as resources for patients and their families.

  • Rare Genes and Genomic Variants Catalog: The catalog is a centralized resource for information about rare genes and genomic variants. It offers a comprehensive database of genetic information related to erythromelalgia, including detailed genetic analysis, gene frequency, and associated diseases.

In addition to these resources, patients can also consider joining patient advocacy groups, which offer further support, information, and connections with other individuals and families affected by erythromelalgia. These organizations may provide opportunities for participating in research initiatives, raising awareness, and advocating for improved understanding and management of the condition.

Research Studies from ClinicalTrialsgov

Research studies and clinical trials play a crucial role in advancing our understanding and treatment of erythromelalgia. These studies provide valuable information for patients, caregivers, and healthcare professionals, and help to improve advocacy, support, and care for individuals with this rare condition.

ClinicalTrials.gov is a valuable resource for finding information about ongoing or completed research studies on erythromelalgia. It is a comprehensive database that provides details about clinical trials, including their purpose, eligibility criteria, locations, and contacts.

See also  HMGCL gene

Several research studies listed on ClinicalTrials.gov focus on understanding the genetic causes, inheritance patterns, and associated factors of erythromelalgia. These studies aim to identify specific genes that may be implicated in the development of this condition and to learn more about the frequency and clinical characteristics of erythromelalgia.

One such study titled “Genetic Testing in Erythromelalgia” aims to identify genes that may be associated with erythromelalgia and evaluate the clinical characteristics of patients with specific genes. The study hopes to provide additional insights into the genetic basis of this condition and its inheritance patterns.

Another study titled “Neuroscience Evidence-Based Medicine Study of Erythromelalgia” aims to explore the role of peripheral nerve dysfunction in erythromelalgia. The study aims to examine the neural mechanisms that may contribute to the development and progression of the disease, with the goal of developing more targeted treatments.

These are just a few examples of the research studies available on ClinicalTrials.gov. By visiting this website, patients and healthcare professionals can access a wealth of information about ongoing and completed studies, learn about relevant articles and scientific resources, and find support and advocacy resources.

For more information about erythromelalgia and related research studies, you can visit the following websites:

By staying informed about the latest research studies and developments, patients, caregivers, and healthcare professionals can better understand and manage erythromelalgia, and contribute to ongoing efforts to find effective treatments and support for individuals with this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It is a valuable resource for understanding the genetic basis of various conditions, including erythromelalgia. Here, you can find information on the clinical features, inheritance patterns, and genetic causes of a wide range of diseases.

OMIM provides access to a wealth of scientific articles and research papers from sources such as PubMed. By exploring the OMIM database, you can learn about the genes associated with erythromelalgia, as well as other rare diseases.

For erythromelalgia specifically, OMIM offers information on the NAV1.7 gene, which is associated with this condition. Some additional genes may also be implicated in rare cases. By considering the genetic factors involved, researchers hope to understand the underlying causes of erythromelalgia and develop more effective treatments.

Additionally, OMIM provides resources for patient advocacy and support, as well as genetic testing. By accessing the OMIM database, patients, healthcare providers, and researchers can stay up-to-date on the latest studies and research findings related to erythromelalgia and other associated diseases.

Wearing shoes for individuals with erythromelalgia can be challenging due to the pain and discomfort caused by the condition. It is important to find appropriate footwear that minimizes pressure and friction on the affected feet. Consultation with a healthcare professional can help in finding suitable options.

In conclusion, OMIM is a valuable tool for exploring the genetic basis of erythromelalgia and other diseases. By accessing the catalog of genes and diseases from OMIM, you can learn more about the clinical features, inheritance patterns, and scientific research associated with this condition.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on erythromelalgia, a rare condition characterized by the burning pain and redness of the feet and, less commonly, the hands. Here, you can find a collection of scientific articles that provide information about the condition, its genetic causes, clinical studies, and more.

  • OMIM: OMIM, or Online Mendelian Inheritance in Man, is a catalog of human genes and genetic disorders. Erythromelalgia has multiple entries in OMIM with different gene names associated with the condition. These entries provide valuable information about the genes, their inheritance patterns, and associated diseases.
  • PubMed Articles: PubMed hosts a variety of scientific articles on erythromelalgia. These articles explore the causes of the condition, clinical studies, genetic testing, and other aspects related to the disease. They provide an in-depth understanding of erythromelalgia and its impact on patients.
  • Neurosci: The Center for Neuromuscular and Rare Diseases is a dedicated center that provides support, resources, and advocacy for patients with rare neurologic conditions, including erythromelalgia. Their website offers additional information on the condition, its symptoms, diagnosis, and management strategies.
  • ClinicalTrials.gov: ClinicalTrials.gov lists ongoing clinical trials for various diseases, including erythromelalgia. These trials aim to test potential treatments, interventions, or diagnostic methods for the condition. Patients can learn more about these studies and their eligibility for participating in them.

By referring to scientific articles on PubMed, patients, clinicians, and researchers can gain a deeper understanding of erythromelalgia and work towards better diagnosis, management, and potential treatments for this rare peripheral nerve disorder.

References