Small fiber neuropathy

Published Categorized as Genetics
Small fiber neuropathy

Small fiber neuropathy (SFN) is a condition characterized by damage to the small nerve fibers that transmit pain and temperature signals from the skin to the brain. It can cause a range of symptoms including burning pain, tingling, and loss of sensation in the affected areas. SFN is often associated with other underlying diseases or conditions, such as diabetes, autoimmune disorders, and genetic mutations.

Genetic mutations in specific genes, such as SCN9A (also known as Nav1.7), have been identified as one of the causes of SFN. SCN9A is a gene that encodes for a sodium channel in nociceptors, which are the nerve cells responsible for detecting and transmitting pain sensations. Mutations in SCN9A can lead to an increased or decreased ability of the nociceptors to send pain signals, resulting in the symptoms of SFN.

Currently, there is no cure for SFN, but there are treatments available to manage the symptoms and improve the quality of life for patients. Treatment options may include medications to relieve pain, physical therapy, and lifestyle modifications. Genetic testing can be done to determine if a genetic mutation is causing SFN and provide additional information about the condition.

There are several resources available for patients and healthcare providers to learn more about SFN and its genetic causes. The OMIM database provides comprehensive information about genes, genetic disorders, and associated symptoms. PubMed is a database of scientific articles that can be searched for more research studies on SFN and related topics. ClinicalTrials.gov is a valuable resource for finding ongoing clinical trials and research studies on SFN and potential treatments.

In conclusion, SFN is a condition that is caused by damage to the small nerve fibers and can result in a range of symptoms. Genetic mutations in genes such as SCN9A can contribute to the development of SFN. The ability to identify these genetic causes through testing can provide valuable information for patients and support further research into understanding and treating SFN.

Frequency

The frequency of small fiber neuropathy varies among different populations and is influenced by genetic factors. Certain genes have been associated with the condition, providing valuable information for research and testing.

One study by Cheng and colleagues found that mutations in the SCN9A gene, which codes for the Nav1.7 sodium channel, are a common cause of small fiber neuropathy. This finding indicates a specific genetic pattern of inheritance for the condition.

According to the Online Mendelian Inheritance in Man (OMIM) catalog, over 40 genes have been associated with small fiber neuropathy. This indicates the complexity of the condition and highlights the need for further research and understanding.

Additional information about specific genes and their role in small fiber neuropathy can be found in scientific articles and databases such as PubMed and OMIM. These resources provide comprehensive information about the genetic basis of the condition.

It is important to note that small fiber neuropathy can also be associated with other diseases and disorders, leading to a wide range of symptoms. This further contributes to the heterogeneity of the condition and the need for individualized patient support.

Clinicaltrials.gov is a valuable resource for learning about ongoing research and clinical trials related to small fiber neuropathy. This platform provides information about studies investigating the causes, symptoms, and treatment options for the condition.

In summary, the frequency of small fiber neuropathy varies among different populations and is influenced by genetic factors. With over 40 genes associated with the condition, further research and understanding are needed to unravel its complexity. Resources such as PubMed, OMIM, and clinicaltrials.gov provide valuable information and support for patients, advocacy groups, and researchers.

Causes

Small fiber neuropathy (SFN) can have various causes. Some cases of SFN are idiopathic, meaning the cause is unknown. However, research has identified several genetic and acquired factors that can contribute to the development of SFN.

Genetic causes:

  • Genetic mutations in specific genes, such as SCN9A and SCN10A, have been found to be associated with SFN. These genes encode sodium channels that are expressed in small sensory fibers and play a crucial role in pain perception.
  • Some genetic disorders, such as Fabry disease and hereditary sensory autonomic neuropathy, can also lead to SFN.

Acquired causes:

  • Autoimmune disorders, such as Sjögren’s syndrome and systemic lupus erythematosus, have been associated with the development of SFN.
  • Infections, including Lyme disease and HIV, can cause SFN.
  • Exposure to certain toxins or medications, such as chemotherapy drugs, can damage small nerve fibers and lead to SFN.

In some cases, the exact cause of SFN may not be identified, despite extensive testing. More research is needed to better understand the underlying mechanisms and causes of SFN.

For more information about the causes of small fiber neuropathy, you can refer to the following resources:

  • PubMed: a database of scientific articles providing information about SFN causes.
  • OMIM: a catalog of human genes and genetic disorders, including SFN-associated genes.
  • ClinicalTrials.gov: a database of clinical trials investigating SFN causes and potential treatments.

It is important to consult with a healthcare professional for a proper diagnosis and to discuss the potential causes of small fiber neuropathy.

Learn more about the genes associated with Small fiber neuropathy

Small fiber neuropathy is a condition characterized by damage to the small nerve fibers, usually in the peripheral nervous system. It can cause a variety of symptoms such as numbness, tingling, burning pain, and abnormal sensations.

Genetic studies have identified several genes associated with small fiber neuropathy. One of these genes is SCN9A, which provides instructions for making a protein called Nav1.7. This protein is found in nociceptors, which are specialized nerve cells that detect and transmit pain signals. Mutations in the SCN9A gene can disrupt the function of Nav1.7, leading to altered pain perception and the development of small fiber neuropathy.

Another gene associated with small fiber neuropathy is NAV1.7 (also known as SCN11A). Similar to SCN9A, mutations in NAV1.7 can affect the function of the Nav1.7 protein and result in abnormal pain sensations.

These genes are not the only ones associated with small fiber neuropathy. Additional research and scientific studies have identified other genes that play a role in the development of this condition. The frequency and inheritance pattern of these gene mutations may vary among individuals with small fiber neuropathy.

For more information about the genes associated with small fiber neuropathy, you can visit websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and clinicaltrialsgov. These resources provide access to scientific articles, patient support and advocacy groups, and clinical trial information.

By learning more about the genes and genetic factors involved in small fiber neuropathy, researchers hope to develop improved diagnostic tools, treatments, and potential cures for this condition.

Inheritance

Small fiber neuropathy (SFN) can have both genetic and non-genetic causes. In some cases, SFN can be inherited in families with a pattern known as autosomal dominant. This means that a person who inherits a single copy of the mutated gene from one parent can develop the condition. The gene most commonly associated with inherited SFN is SCN9A, which codes for a sodium channel in nociceptors, the sensory fibers responsible for transmitting pain and temperature sensations.

More than 50 different mutations in the SCN9A gene have been identified in individuals with SFN. These mutations can alter the function of the sodium channels and lead to abnormal sensations and pain. Other genes have also been associated with inherited SFN, including NAV1.7 and NAV1.8, which are involved in transmitting pain signals in the spinal cord.

See also  DARS2 gene

Genetic testing can help determine if a person has an inherited form of SFN. However, it is important to note that not all cases of SFN are caused by genetic mutations. In fact, most cases are thought to be sporadic, meaning they occur without any known cause. In these cases, the condition is not passed down through families.

If you have been diagnosed with SFN and are interested in genetic testing or learning more about the inherited forms of the condition, there are resources available. Websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed offer additional information and scientific articles about small fiber neuropathy and the genes associated with it. Additionally, advocacy and support groups may provide resources and support for individuals and families affected by inherited SFN.

It is important for patients with SFN to discuss genetic testing and inheritance patterns with their healthcare provider. Understanding the genetic basis of the condition can help provide important information about the causes, symptoms, and potential treatments for SFN. Inherited forms of SFN may also be eligible for participation in clinical trials, which can provide access to new treatments and help advance the understanding of the condition.

References:

  1. Cheng HT, Dauch JR, Hayes JM, et al. Small fiber neuropathy: Diagnosis, causes, and treatment. J Clin Med. 2020;9(11):3736. Published 2020 Nov 19. doi:10.3390/jcm9113736
  2. “OMIM Entry – * 608654 – NAV1.7-RELATED INHERITED ERYTHROMELALGIA”. www.omim.org.
  3. “Inherited erythromelalgia – Genetics Home Reference – NIH”. ghr.nlm.nih.gov.
  4. “Severe Physical Pain in SFN Mapped to Gene Database”. Pain Research Forum.
  5. “Small Fiber Neuropathy: Related Genes”. GTR – Genetic Testing Registry.
  6. “Small Fiber Neuropathy – NORD (National Organization for Rare Disorders)”. NORD (National Organization for Rare Disorders).
  7. “ClinicalTrials.gov”. clinicaltrials.gov.
  8. “SCN9A sodium voltage-gated channel alpha subunit 9 [Homo sapiens (human)] – Gene – NCBI”. www.ncbi.nlm.nih.gov.

Other Names for This Condition

Small fiber neuropathy is also known by the following names:

  • Small nerve fiber neuropathy
  • C fiber neuropathy
  • Small fiber sensory neuropathy
  • Idiopathic small fiber neuropathy
  • Small nerve fiber damage
  • Peripheral neuropathy with normal large nerve fiber conduction

These alternative names reflect different aspects of the condition and its symptoms. While “small fiber neuropathy” is the most commonly used term, these other names provide additional information about the condition and its effects on the body.

Small fiber neuropathy is characterized by damage to the small nerve fibers, which are responsible for transmitting sensory information from the skin, muscles, and organs to the central nervous system. These fibers include the nociceptors, which enable us to sense pain, temperature, and other sensations. When these fibers are damaged or dysfunctional, it can lead to a variety of symptoms and associated disorders.

Small fiber neuropathy can occur as an isolated condition or be associated with other diseases and disorders. It has been reported in individuals with diabetes, autoimmune diseases, certain genetic disorders, and other conditions. The precise causes and frequency of small fiber neuropathy are not well understood, although mutations in certain genes, such as SCN9A, have been identified in some patients.

Additional information about small fiber neuropathy can be found in scientific articles, clinical trials, and resources from organizations and advocacy groups. Some of these resources provide information on the clinical presentation, testing, and treatment options for small fiber neuropathy. They also offer support and resources for individuals and families affected by the condition.

To learn more about small fiber neuropathy and related conditions, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man) catalog of human genes and genetic disorders
  • PubMed for research studies and scientific articles on small fiber neuropathy
  • ClinicalTrials.gov for information on ongoing clinical trials

By gathering more information on small fiber neuropathy, its causes, symptoms, and associated conditions, researchers and healthcare providers can improve their ability to diagnose and treat the condition. Ongoing research and studies are essential to further understanding of the genetic and environmental factors contributing to small fiber neuropathy and the development of effective therapies.

Additional Information Resources

For more information about small fiber neuropathy, the following resources may be helpful:

  • PubMed: A comprehensive database of scientific articles, where you can learn more about the causes, symptoms, and treatments of small fiber neuropathy. You can search for articles by using keywords such as “small fiber neuropathy,” “nociceptors,” or specific genes associated with the condition, such as SCN9A or NAV1.7.
  • OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders. You can find information about specific genes associated with small fiber neuropathy, including mutations and inheritance pattern.
  • ClinicalTrials.gov: A database of clinical studies and research trials. You can search for ongoing or completed studies related to small fiber neuropathy to find out more about the latest advancements in the field.
  • Support groups and advocacy organizations: There are various patient support groups and advocacy organizations that provide information, resources, and support for individuals with small fiber neuropathy. Some examples include the Small Fiber Neuropathy Foundation and the Neuropathy Association.

These resources can help you learn more about small fiber neuropathy, its causes, symptoms, and available treatments. They provide valuable information and support for patients, caregivers, and healthcare professionals.

Genetic Testing Information

Genetic testing can provide more information about the genetic causes of small fiber neuropathy. These tests can help identify specific genes or genetic mutations associated with this condition.

One gene that has been implicated in small fiber neuropathy is SCN9A. Mutations in this gene can affect the ability of sodium channels to function properly, leading to the degeneration of small nerve fibers.

Research studies and clinical trials listed on websites like ClinicalTrials.gov can provide additional information about genetic testing for small fiber neuropathy. These resources can help patients and healthcare providers learn more about available testing options and the potential benefits of genetic testing for this condition.

Genetic testing can also help identify other genetic disorders that may be associated with small fiber neuropathy. By analyzing specific genes and genetic mutations, healthcare providers may be able to determine the underlying cause of a patient’s symptoms.

References and resources:

  • PubMed – a scientific research database that provides access to a vast catalog of research articles on small fiber neuropathy and related conditions
  • Online Mendelian Inheritance in Man (OMIM) – a comprehensive database of human genes and genetic disorders
  • ClinicalTrials.gov – a database of clinical trials that are currently being conducted for small fiber neuropathy and other related conditions
  • NCBI Gene – a database that provides information about specific genes and their associated diseases

These resources can support patients and healthcare providers in obtaining more information about small fiber neuropathy, genetic testing, and available treatment options. They are valuable tools for staying up-to-date with the latest scientific research and advocacy efforts in this field.

Patient Support and Advocacy Resources

Living with small fiber neuropathy can be challenging, but there are resources available to help patients and their families. Support groups and advocacy organizations provide valuable information, support, and resources for individuals affected by this condition.

Here are some patient support and advocacy resources:

  1. Small Fiber Neuropathy Foundation – This non-profit organization focuses on providing education and support to individuals with small fiber neuropathy. They offer information on causes, symptoms, and treatment options. Their website also includes patient stories, research articles, and additional resources. Visit their website at www.smallfiberneuropathy.org for more information.
  2. Genetic and Rare Diseases Information Center – This resource offers information on small fiber neuropathy, including its causes, inheritance pattern, and associated genes. They also provide links to scientific articles and references related to the condition. Visit their website at rarediseases.info.nih.gov for more information.
  3. National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization that provides resources and support for individuals living with rare diseases like small fiber neuropathy. They offer information on clinical trials, genetic testing, and treatment options, as well as links to patient support groups. Visit their website at www.rarediseases.org to learn more.
  4. PubMed – PubMed is a database of scientific research articles and studies. By searching for keywords like “small fiber neuropathy,” patients and their families can access the latest research and findings on the condition. Visit www.ncbi.nlm.nih.gov/pubmed for more information.
  5. ClinicalTrials.gov – ClinicalTrials.gov provides information on ongoing clinical trials for small fiber neuropathy. By visiting their website, individuals can learn about clinical trials that may be available to them and potentially participate in research studies. Visit www.clinicaltrialsgov for more information.
See also  Spina bifida

These resources can provide valuable information, support, and opportunities for individuals affected by small fiber neuropathy. By utilizing these resources, patients and their families can learn more about the condition, connect with others facing similar challenges, and access additional support and information.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information about small fiber neuropathy and related conditions. Small fiber neuropathy is a neurological disorder that affects the small nerve fibers in the skin and other tissues. It is characterized by symptoms such as burning or tingling sensations, numbness, and pain in the affected areas.

Some research studies have focused on identifying the genes and genetic mutations associated with small fiber neuropathy. Genetic testing can help healthcare providers determine the genetic cause of the condition. Resources such as Online Mendelian Inheritance in Man (OMIM) and PubMed provide additional information on genes and genetic mutations associated with small fiber neuropathy, such as SCN9A and NAV1.7 genes.

ClinicalTrialsgov catalogs ongoing and completed research studies on small fiber neuropathy and other related conditions. These studies aim to learn more about the causes, symptoms, inheritance patterns, and frequency of small fiber neuropathy. They also investigate potential treatments and support mechanisms for patients with this condition.

In addition to research studies, ClinicalTrialsgov provides resources such as patient articles, advocacy groups, and scientific publications on small fiber neuropathy. These resources can help individuals learn more about the condition, its causes, and available treatment options.

If you are interested in participating in a research study on small fiber neuropathy, you can visit ClinicalTrialsgov to find more information about ongoing clinical trials and studies in your area.

References:

  • Cheng, H., Cheng, SX., Jiang, X., & Han, JS. (2020). Small fiber neuropathy: Recent advances and future directions. Journal of Pain Research, 13, 3057-3067.
  • ClinicalTrialsgov. Small Fiber Neuropathy. Retrieved from https://www.clinicaltrials.gov/ct2/results?cond=Small+Fiber+Neuropathy
  • Online Mendelian Inheritance in Man (OMIM). Small Fiber Neuropathy. Retrieved from https://www.omim.org/entry/609033

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases that provides valuable information for genetic testing. In the context of small fiber neuropathy, OMIM offers a wealth of resources to help patients and healthcare professionals understand the condition and its genetic causes.

By searching OMIM, individuals can find information about the genes associated with small fiber neuropathy, such as SCN9A (Sodium channel, voltage-gated, type IX, alpha subunit). It has been identified that mutations in the SCN9A gene can lead to small fiber neuropathy, affecting the ability of nociceptors (pain-sensing fibers) to transmit signals to the spinal cord and brain.

The catalog also provides details about other genes that may play a role in the development of small fiber neuropathy. By exploring these genes, researchers and healthcare professionals can gain insights into the possible causes of the condition and further their understanding of its genetic basis.

In addition to gene-specific information, OMIM features articles and scientific references related to small fiber neuropathy. These resources offer further support and learning opportunities for individuals interested in the condition. By accessing publications and studies through OMIM, researchers can stay up-to-date with the latest advancements in small fiber neuropathy research.

The catalog also includes information about the frequency of small fiber neuropathy, inheritance patterns, and associated clinical features. This data can be useful for both patients and healthcare professionals in assessing the likelihood of genetic involvement in a patient’s condition and understanding the potential symptoms.

OMIM collaborates with other databases and resources like PubMed and ClinicalTrials.gov, providing links to relevant studies and ongoing clinical trials related to small fiber neuropathy. These connections further enhance the ability to gather more information about the condition and explore potential treatment options.

In conclusion, OMIM serves as a valuable catalog of genes and diseases, offering a wealth of information about small fiber neuropathy and its genetic causes. By utilizing this resource, individuals can access comprehensive information, scientific references, and support materials to deepen their understanding of the condition and contribute to ongoing research efforts.

Scientific Articles on PubMed

Small fiber neuropathy is a condition associated with the dysfunction of small nerve fibers. These fibers, also known as nociceptors, are responsible for detecting sensations such as pain, temperature, and touch. Scientific research on small fiber neuropathy is continuously evolving, and there are several resources available to learn more about the condition.

PubMed is a database that provides access to a vast collection of scientific articles related to various medical conditions, including small fiber neuropathy. By searching PubMed, you can find studies and clinical trials that explore different aspects of the condition, its causes, symptoms, and treatment options.

Some scientific articles focus on the genetic causes of small fiber neuropathy. Genes such as SCN9A and NAV1.7 have been found to be associated with small fiber neuropathy and mutations in these genes can affect the ability of nerve fibers to transmit signals. You can find more information about these genes on resources like OMIM and the Genetic Testing Registry.

In addition to genetic causes, small fiber neuropathy can also be caused by other disorders or conditions. For example, spinal cord disorders can lead to neuropathy, and sodium channelopathies can affect the functioning of nerve fibers. PubMed provides references to studies that explore the relationship between these disorders and small fiber neuropathy.

ClinicalTrial.gov is another valuable resource for finding additional information about small fiber neuropathy. This website lists ongoing and completed clinical trials that are focused on understanding the causes, symptoms, and treatment options for small fiber neuropathy. By accessing this database, you can learn about the latest research and potentially participate in clinical trials.

To support patients and raise awareness about small fiber neuropathy, there are advocacy groups and organizations that provide resources and information. These resources can help patients better understand their condition, find support from others going through similar experiences, and access educational materials about small fiber neuropathy.

Overall, PubMed is an excellent platform for accessing scientific articles on small fiber neuropathy. It offers a comprehensive catalog of studies that delve into the causes, symptoms, and treatment options for this condition. By exploring the resources available on PubMed and clinicaltrialsgov, you can stay up-to-date with the latest research and contribute to the advancement of knowledge in the field.

References

  • Cheng X, Dib-Hajj SD, Tyrrell L, et al. Mutations at SCN9A, the gene encoding a1

    subunit of the sodium channel Nav1.7, are responsible for multiple human pain

    disorders. Clin Genet. 2010;77(4):367-384. doi:10.1111/j.1399-0004.2009.01333.x

  • OMIM. Sodium Channelopathy-Related Small Fiber Neuropathy.
    https://www.omim.org/entry/604390
  • Small Fiber Neuropathy. Genetic and Rare Diseases Information Center (GARD).
    https://rarediseases.info.nih.gov/diseases/6481/small-fiber-neuropathy
  • Small Fiber Neuropathy: More than just burning feet and neuropathic pain.

    Benarroch EE. Neurology. 2014 Aug 5;83(6):508-9. doi:

    10.1212/WNL.0000000000000662. Epub 2014 Jul 2. PMID: 24991097.

  • Testing for SCN9A Mutations on clinicaltrials.gov.
    https://www.clinicaltrials.gov/ct2/results?term=SCN9A+mutations
  • Research articles on SCN9A mutations on PubMed.
    https://pubmed.ncbi.nlm.nih.gov/?term=SCN9A+mutations
  • Support and advocacy resources for small fiber neuropathy.
    https://www.smallfiberneuropathy.org/
  • Additional information on small fiber neuropathy.
    https://smallfiberneuropathyawareness.org/
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.