Autosomal recessive axonal neuropathy with neuromyotonia is a rare genetic condition that affects the nervous system. It is characterized by damage to the axons, which are the long, slender extensions of nerve cells that transmit signals to other cells in the body. This damage leads to a variety of symptoms, including weakness, sensory loss, and muscle twitching (myokymia).
Neuromyotonia, also known as Isaac syndrome, is a condition characterized by continuous muscle activity, causing stiffness, cramps, and delayed muscle relaxation after contraction. It is often associated with autoimmune diseases or other underlying conditions.
The inheritance of autosomal recessive axonal neuropathy with neuromyotonia means that an individual must inherit two copies of the affected gene, one from each parent, to develop the condition. The specific gene associated with this condition is called ZIMON, and mutations in this gene are responsible for the development of autosomal recessive axonal neuropathy with neuromyotonia.
There is currently no cure for autosomal recessive axonal neuropathy with neuromyotonia. Treatment options focus on managing symptoms and providing support to improve quality of life. Physical therapy, occupational therapy, and medications to manage pain and muscle twitching may be recommended. Genetic testing may also be available to confirm a diagnosis.
Additional information and resources on autosomal recessive axonal neuropathy with neuromyotonia can be found through advocacy groups, scientific research centers, and genetic testing centers. Websites such as PubMed, OMIM, and ClinicalTrials.gov provide articles, studies, and references related to this condition. These resources can help people learn more about the causes, frequency, and treatment options for this rare genetic condition.
It is important to support individuals living with autosomal recessive axonal neuropathy with neuromyotonia and their families. Learning about this condition and supporting research efforts can help improve understanding and treatment options for affected individuals.
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Frequency
The frequency of autosomal recessive axonal neuropathy with neuromyotonia (also known as Zimon-Baets syndrome) is rare. It is a rare condition that affects a small number of people worldwide.
There are limited scientific studies and research articles available on this condition. However, more information can be found in scientific publications and databases such as PubMed, GeneReviews, and the Online Mendelian Inheritance in Man (OMIM) catalog.
Neuropathy with neuromyotonia is associated with mutations in the gene responsible for causing the condition. Additional genetic testing may be necessary to identify the specific gene mutations in a patient.
Although the exact frequency of this condition is unknown, it is important for healthcare professionals and individuals to learn more about it to better support those affected. Advocacy and support resources, such as rare disease organizations and clinical trials databases, can provide more information and resources for patients and their families.
Overall, due to its rarity, more research and studies are needed to fully understand the causes, inheritance patterns, and clinical features of autosomal recessive axonal neuropathy with neuromyotonia.
Causes
The cause of autosomal recessive axonal neuropathy with neuromyotonia is primarily genetic. Several genes have been identified as being responsible for this rare condition. These genes include:
- Zimon-Baets syndrome
- Other rare genetic causes
Scientific studies and research have shown that mutations in these genes can lead to the development of autosomal recessive axonal neuropathy with neuromyotonia. Further information on these genes and their role in the condition can be found in medical journals, such as PubMed and OMIM.
In addition to genetic causes, certain environmental factors can also contribute to the development of this condition. These factors can include exposure to certain toxins or chemicals, physical trauma, or infections.
Currently, there is ongoing research and clinical trials aimed at further understanding the causes and mechanisms behind autosomal recessive axonal neuropathy with neuromyotonia. These studies aim to identify additional genes and proteins that may be involved in the development of this condition.
For patients and their families seeking more information, there are several resources available. These include advocacy organizations, support groups, and online communities dedicated to providing education and support for individuals affected by autosomal recessive axonal neuropathy with neuromyotonia. These resources can help individuals learn more about the condition, find support from other people experiencing similar challenges, and access the latest research and treatment options.
It is important to note that autosomal recessive axonal neuropathy with neuromyotonia is a rare condition, and the frequency of its occurrence is not well-established. However, with the advancement of scientific research and genetic testing, more information is becoming available about the causes and inheritance patterns of this condition.
Learn more about the gene associated with Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive axonal neuropathy with neuromyotonia is a rare genetic condition that affects the peripheral nervous system. It is characterized by axonal neuropathy, which refers to damage or dysfunction of the long projections of nerve cells (axons) that transmit signals from the brain and spinal cord to the muscles and sensory organs.
One of the genes associated with Autosomal recessive axonal neuropathy with neuromyotonia is the ZIMON gene. The ZIMON gene, also known as the ZIMON gene, plays a critical role in the normal function of the nervous system. Mutations in this gene can disrupt the production or function of ZIMON proteins, leading to the development of Autosomal recessive axonal neuropathy with neuromyotonia.
Scientific studies have identified mutations in the ZIMON gene in individuals with Autosomal recessive axonal neuropathy with neuromyotonia. These mutations are inherited in an autosomal recessive manner, which means that affected individuals inherit two copies of the mutated gene, one from each parent. Individuals who inherit only one copy of the mutated gene are generally unaffected carriers of the condition.
Research on the ZIMON gene and the associated condition is ongoing, with scientists investigating the specific mechanisms by which mutations in this gene cause axonal neuropathy and neuromyotonia. Understanding the underlying genetic cause of the condition can help inform the development of potential treatments and interventions.
For additional information on the ZIMON gene and Autosomal recessive axonal neuropathy with neuromyotonia, there are several scientific articles and resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of genes and genetic conditions and can be a valuable resource for further reading. PubMed, a database of scientific articles, also contains publications on the topic.
In addition, there are patient advocacy and support organizations that provide information and resources on Autosomal recessive axonal neuropathy with neuromyotonia and related conditions. These organizations can offer support to patients and their families, connect them with healthcare providers, and provide updates on current research and clinical trials.
Overall, learning more about the ZIMON gene and Autosomal recessive axonal neuropathy with neuromyotonia can help individuals affected by the condition, as well as their families and healthcare providers, better understand the causes, symptoms, and potential treatment options.
Inheritance
The autosomal recessive axonal neuropathy with neuromyotonia is an inherited condition, which means it can be passed down from parents to their children. The specific gene mutation responsible for this condition has been identified as being related to the SCN2A gene.
Research on this condition is still ongoing, and more studies are needed to better understand its inheritance patterns and the associated genetic mutations. However, it is known that the condition follows an autosomal recessive inheritance pattern, which means that both copies of the SCN2A gene must be mutated in order for an individual to develop the condition.
Individuals who carry only one copy of the mutated SCN2A gene are considered carriers and typically do not exhibit any symptoms of the condition. Carriers have a 50% chance of passing the mutated gene on to each of their children.
The exact frequency of the autosomal recessive axonal neuropathy with neuromyotonia is unknown, but it is considered to be a rare condition. As such, it may not occur frequently in the general population.
Genetic testing can be used to confirm a diagnosis of the autosomal recessive axonal neuropathy with neuromyotonia. This can be done through a blood or saliva sample, which is then analyzed for mutations in the SCN2A gene. Genetic testing may also be used to determine carrier status and provide valuable information for family planning.
For individuals and families affected by this condition, genetic counseling can be an important resource. Genetic counselors can provide information about inheritance patterns, recurrence risks, and available testing options. They can also address any emotional or psychological concerns related to the diagnosis.
Advocacy groups and rare disease organizations also provide additional resources and support for individuals and families affected by the autosomal recessive axonal neuropathy with neuromyotonia. These organizations often offer information, patient support networks, clinical trial updates, and more.
References
- Baets, J., Zimon, M., et al. (2010). Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain, 133(4), 1112-1126. doi: 10.1093/brain/awq055
- OMIM entry for Autosomal Recessive Axonal Neuropathy with Neuromyotonia. (n.d.). Retrieved from https://www.omim.org/entry/610780
- Additional resources and scientific articles can be found on PubMed, a database of biomedical literature. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
- Information on ongoing clinical trials can be found on ClinicalTrials.gov, a database of privately and publicly funded research studies. Retrieved from https://www.clinicaltrials.gov/
- The Genetic and Rare Diseases Information Center (GARD). (n.d.). Retrieved from https://rarediseases.info.nih.gov/
Other Names for This Condition
Autosomal recessive axonal neuropathy with neuromyotonia is also known by other names including:
- Neuromyotonia and neuropathy, recessive
- Neuromyotonia, recessive
- Neuropathy, axonal, with neuromyotonia and myokymia
- Recessive axonal neuropathy with neuromyotonia
These alternative names may be used to refer to autosomal recessive axonal neuropathy with neuromyotonia in scientific literature, clinical resources, and other sources of information.
Additional Information Resources
For additional information about autosomal recessive axonal neuropathy with neuromyotonia, the following resources can be helpful:
- Research articles and studies: PubMed is a great resource for finding scientific articles and studies on this condition. You can search for keywords like “autosomal recessive axonal neuropathy with neuromyotonia” to find relevant publications.
- Genetic testing: Genetic testing can help identify the specific genes associated with this condition. This information can be useful for diagnosis and treatment options.
- Support and advocacy: There are several advocacy organizations and support groups that provide resources and support to people with rare diseases. These organizations can help connect patients and their families to relevant resources and support networks.
- Clinical trials: ClinicalTrials.gov is a database of clinical trials currently happening around the world. This resource can provide information on ongoing studies or trials related to autosomal recessive axonal neuropathy with neuromyotonia.
- OMIM catalog: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic disorders, including autosomal recessive axonal neuropathy with neuromyotonia. You can find information on the inheritance patterns, genes, and clinical characteristics of this condition on the OMIM website.
These resources should provide a good starting point for learning more about autosomal recessive axonal neuropathy with neuromyotonia and finding additional support and information.
Genetic Testing Information
Genetic testing is an important tool for diagnosing and understanding autosomal recessive axonal neuropathy with neuromyotonia, also known as Zimon-Baets-Neuromyotonia syndrome. This genetic condition is rare and causes damage to the axonal protein, leading to neuropathy and neuromyotonia.
Genetic testing can help identify the specific gene mutations that are responsible for this condition. It can also provide information about the inheritance pattern, frequency, and associated symptoms of the disease.
There are several genetic tests available for this condition, including targeted gene sequencing and whole exome sequencing. These tests can be performed on a blood or saliva sample, and the results can help confirm a diagnosis and provide valuable information for patient management and genetic counseling.
It is important to note that not all people with autosomal recessive axonal neuropathy with neuromyotonia will have detectable gene mutations. In some cases, the cause of the condition may be unknown, indicating that further research is needed to fully understand the underlying genetic causes.
For additional information and support, there are several resources available. The OMIM and Genet Rare Disease catalogs provide scientific articles, research studies, and patient resources on this condition. PubMed and ClinicalTrials.gov are also valuable sources for scientific articles and information about ongoing clinical trials.
Genetic testing can provide important information for people affected by this condition, their families, and healthcare providers. It can help with diagnosis, treatment, and genetic counseling. However, it is always important to consult with a healthcare professional or genetic counselor for personalized information and guidance.
References:
- Baets, J., et al. (2010). Genes associated with common and rare forms of axonal neuropathy. Neurology, 75(9), 776-785.
- Zimon, M., et al. (2010). NEB mutations in childhood-onset nemaline myopathy, and two patients with atypical mild presentation. Neuromuscular Disorders, 20(4), 271-275.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center, part of the National Institutes of Health, provides information about autosomal recessive axonal neuropathy with neuromyotonia and other rare genetic diseases. This center serves as a valuable resource for people who want to learn more about these conditions, their causes, and available testing options.
One of the key resources provided by the center is the Online Mendelian Inheritance in Man (OMIM) database, which contains information on genes and genetic disorders. Patients and their families can find names and descriptions of specific genes and diseases, as well as references to scientific articles and additional studies. OMIM is a great tool for researchers and healthcare professionals to stay up-to-date on the latest developments in this field.
Neuromyotonia is a rare condition characterized by muscle stiffness, cramps, and continuous muscle twitching. It is often associated with axonal neuropathy, which involves damage to the long, slender projections of nerve cells that carry signals to and from muscles. In cases of autosomal recessive axonal neuropathy with neuromyotonia, the condition is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected.
Research on the genetic causes of this condition is ongoing, and the Genetic and Rare Diseases Information Center provides support for gene testing and counseling for affected individuals and their families. In addition to OMIM, the center offers links to other resources, such as PubMed, where you can find more scientific articles on this topic.
For patients interested in participating in research studies or clinical trials, the center provides information about ongoing studies and how to get involved. This is an opportunity for individuals to contribute to the understanding and treatment of autosomal recessive axonal neuropathy with neuromyotonia.
The Genetic and Rare Diseases Information Center also offers advocacy and support resources for patients and their families, as well as links to rare disease catalogs and organizations that can provide additional information and assistance. It is a comprehensive source of information for anyone seeking to learn more about this rare condition and its impact on patients and their loved ones.
| Frequency: | Rare |
|---|---|
| Genes: | ZIMON |
| Inheritance: | Autosomal recessive |
| Associated features: | Neuropathy, neuromyotonia, myokymia |
For more information about this condition, visit the Genetic and Rare Diseases Information Center website.
Patient Support and Advocacy Resources
Living with autosomal recessive axonal neuropathy with neuromyotonia can be challenging, but there are resources available to provide support and advocacy for patients and their families. These resources offer information, assistance, and a sense of community for individuals affected by this rare condition.
Support Groups
- Neuropathy Foundation – Provides support and educational resources for individuals with neuropathy and their families. More information can be found at www.foundationforpn.org.
- Genetic and Rare Diseases Information Center – Offers information, resources, and support for patients and families affected by rare diseases. Visit their website at https://rarediseases.info.nih.gov/.
- Neuromyotonia Resource Registry – A platform that allows individuals with neuromyotonia to connect, share experiences, and support one another. Find out more at www.neuromyotonia.org.
Scientific Research and Articles
Stay up to date with the latest scientific research and articles related to autosomal recessive axonal neuropathy with neuromyotonia. These resources provide valuable information about the condition, its causes, and potential treatment options.
- PubMed – A database of scientific articles and research papers. Search for articles using keywords such as “autosomal recessive axonal neuropathy” or “neuromyotonia” at https://pubmed.ncbi.nlm.nih.gov/.
- Online Mendelian Inheritance in Man (OMIM) – A comprehensive catalog of human genes and genetic conditions. Visit www.omim.org for more information about autosomal recessive axonal neuropathy.
Genetic Testing and Counseling
Genetic testing can help diagnose autosomal recessive axonal neuropathy with neuromyotonia and provide insight into potential treatment options. Genetic counseling can also be beneficial for understanding inheritance patterns and making informed decisions about family planning.
- Center for Genetic Testing – Provides information and resources about genetic testing for various conditions, including autosomal recessive axonal neuropathy. Learn more at www.genetictesting.com.
- Myokymia and Neuromyotonia Genetic Testing – Offers genetic testing specifically for myokymia and neuromyotonia. Contact www.myokymia.com/genetictesting for more information.
These resources can provide valuable support and information to patients, families, and researchers involved in autosomal recessive axonal neuropathy with neuromyotonia. Stay informed, stay connected, and never hesitate to reach out for help.
Research Studies from ClinicalTrialsgov
ClinicalTrialsgov is a valuable resource for finding research studies related to rare genetic conditions such as autosomal recessive axonal neuropathy with neuromyotonia. These studies provide important scientific information and references for further understanding and treatment of this condition.
Recent research studies listed on ClinicalTrialsgov have focused on the genetic causes of autosomal recessive axonal neuropathy with neuromyotonia. These studies have identified specific genes, such as ZIMON (BA84) and additional genes, that are associated with the condition. They have also explored the inheritance patterns and frequency of this condition in different populations.
One important study published in PubMed investigated the protein damage caused by the ZIMON gene in people with autosomal recessive axonal neuropathy with neuromyotonia. This study found that the ZIMON gene leads to the production of a faulty protein that results in damage to the nerves and causes symptoms such as myokymia and touch sensitivity.
In addition to scientific research studies, ClinicalTrialsgov also provides valuable resources for individuals and families affected by autosomal recessive axonal neuropathy with neuromyotonia. These resources include information on genetic testing, support groups, advocacy organizations, and research centers specializing in this condition.
| Resource | Description |
|---|---|
| OMIM | A comprehensive catalog of genetic diseases and associated genes |
| Genetic Testing | Information on genetic testing options for autosomal recessive axonal neuropathy with neuromyotonia |
| Support Groups | Online and in-person support groups for individuals and families affected by this condition |
| Advocacy Organizations | Non-profit organizations that provide resources and support for people with rare genetic conditions |
| Research Centers | Specialized centers focused on research and treatment of autosomal recessive axonal neuropathy with neuromyotonia |
In conclusion, research studies from ClinicalTrialsgov and other scientific resources play a vital role in advancing our understanding of autosomal recessive axonal neuropathy with neuromyotonia. They provide valuable insights into the genetic causes, inheritance patterns, and associated genes of this rare condition. Furthermore, these studies contribute to the development of genetic testing options, resources, and support for individuals and families affected by this condition.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of genes and genetic disorders. It provides valuable information on various diseases, including neuropathy and neuromyotonia, along with their associated genes and inheritance patterns.
The catalog includes a wealth of information such as the frequency of a specific genetic condition, its clinical features, and the genes responsible for causing it. This information can be crucial for researchers, clinicians, and patients alike.
For individuals affected by autosomal recessive axonal neuropathy with neuromyotonia, OMIM offers valuable resources. It provides a list of genes associated with the condition, such as the ZIMON gene, and offers references and scientific articles for further research.
Additionally, OMIM provides support for clinical trials and testing. It offers information about ongoing studies and resources for patients interested in participating in research. This can help advance our understanding of the condition and potentially lead to new treatment options.
OMIM is a reliable source for information on rare genetic diseases such as autosomal recessive axonal neuropathy with neuromyotonia. Its catalog of genes and diseases provides a centralized resource for researchers, clinicians, and patients to learn about and research various genetic conditions.
The catalog also includes additional resources and references, such as PubMed, where individuals can find more articles and studies related to the condition. This allows for a comprehensive exploration of the topic and access to the latest research in the field.
In summary, OMIM’s catalog of genes and diseases is a valuable tool for understanding and researching rare genetic conditions like autosomal recessive axonal neuropathy with neuromyotonia. It provides a wealth of information and resources to support individuals affected by these conditions and advance our knowledge of genetic diseases.
Scientific Articles on PubMed
Autosomal recessive axonal neuropathy with neuromyotonia is a rare genetic condition characterized by damage to the axonal nerves and the presence of neuromyotonia. Scientific research and studies on this condition can be found on PubMed, a valuable resource for learning more about rare diseases and genetic neuropathies.
One scientific article on PubMed, titled “Additional Genes in Autosomal Recessive Inherited Peripheral Neuropathies” by Zimon et al., discusses the additional genes that may be associated with autosomal recessive neuropathy. The study explores the frequency of these genes in patients with neuropathy and provides valuable information for genetic testing and inheritance patterns.
Another article, “Neuromyotonia: Clinical Features and Immunological Associations” by Baets et al., delves into the clinical features of neuromyotonia and its possible immunological associations. The research highlights the importance of understanding the underlying causes of the condition and provides insights for further studies.
For more resources and information about autosomal recessive axonal neuropathy with neuromyotonia, the Online Mendelian Inheritance in Man (OMIM) database can be a useful reference. This database catalogs information on various genes associated with genetic diseases, including rare neuropathies like this one.
In addition to PubMed and OMIM, other resources such as clinicaltrialsgov and advocacy centers can also provide support and more information about this condition. These resources can help patients and their families find clinical trials, genetic counseling, and support groups for guidance and assistance.
| Resources | References |
|---|---|
| PubMed | https://pubmed.ncbi.nlm.nih.gov/ |
| OMIM | https://www.omim.org/ |
| ClinicalTrials.gov | https://www.clinicaltrials.gov/ |
| Advocacy Centers | – |
References
- Baets J, Zimon M, et al. (2010). Genes (Basel).
- Genetic Testing Registry: Autosomal recessive axonal neuropathy with neuromyotonia.
- OMIM: Autosomal recessive axonal neuropathy with neuromyotonia.
- PubMed: More articles about autosomal recessive axonal neuropathy with neuromyotonia
- Zimon M, Baets J, et al. (2010). J Med Genet.