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Neuromyelitis optica (NMO), also known as Devic’s disease, is a rare autoimmune disorder that primarily affects the optic nerves and spinal cord. It is frequently associated with other disorders such as multiple sclerosis, but it has distinct clinical features and a different course. The condition is characterized by opticospinal inflammation and damage to the central nervous system.

Research indicates that there may be a genetic component to NMO, as several genes have been identified that are associated with the condition. However, the inheritance patterns are still not well understood, and further studies are needed to determine the exact causes and frequency of this condition.

Patients with NMO usually present with symptoms such as visual impairment, pain, weakness, and sensory loss, which can affect different parts of the body. The condition primarily affects women, and there is currently no cure for NMO. Treatment options aim to manage symptoms, prevent relapses, and support the patient’s overall well-being.

For more information on Neuromyelitis optica, visit the clinicaltrialsgov website or refer to reputable scientific articles available on PubMed. Additional support and advocacy can be found through organizations such as the Neuromyelitis Optica Spectrum Disorders International Research and Clinical Education (NMO-IGG) Center or the Online Mendelian Inheritance in Man (OMIM) catalog.

Frequency

Neuromyelitis optica (NMO) is a rare autoimmune disorder that primarily affects the optic nerves and spinal cord. It is more frequently seen in women than in men. The frequency of NMO varies across different populations, with higher rates reported in certain ethnic groups such as Asians and individuals of African descent.

According to research articles and clinical trials, the exact frequency of NMO is not well-established. However, studies suggest that NMO accounts for approximately 1% to 5% of all central nervous system demyelinating disorders.

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NMO is often associated with the presence of a specific antibody called NMO-IgG or aquaporin-4 (AQP4) antibody. This antibody, which is found in the blood and cerebrospinal fluid, targets AQP4 protein, causing inflammation and damage to optic nerves and spinal cord tissues.

Additional genetic studies have identified other genes that may play a role in the development of NMO. However, the mode of inheritance and the exact causes of the condition are not yet fully understood.

For more information on the frequency and genetic factors associated with NMO, additional research and scientific studies are needed. ClinicalTrials.gov and PubMed are reliable sources for scholarly articles and clinical trials related to NMO.

Causes

Neuromyelitis optica (NMO) is a rare autoimmune disorder characterized by inflammation and damage to the optic nerves and spinal cord. The exact cause of NMO is still unknown, but there are several factors that have been associated with the development of the condition.

One of the main causes of NMO is the presence of a specific antibody called NMO-IgG, which has been found in the blood of patients with NMO. NMO-IgG is thought to target a protein called aquaporin-4, which is found in the central nervous system, including the optic nerves and spinal cord. When NMO-IgG binds to aquaporin-4, it triggers an inflammatory response, leading to the characteristic symptoms of NMO.

In addition to the presence of NMO-IgG, genetics also play a role in the development of NMO. Studies have shown that certain genes may increase the risk of developing NMO. However, NMO is not directly inherited, and other factors, such as environmental triggers, are likely involved in the development of the condition. More research is needed to fully understand the genetic component of NMO.

There are also other factors that have been associated with an increased risk of developing NMO. For example, women are more likely than men to develop NMO, and the condition is more frequently seen in individuals of Asian descent. Certain infections, such as the Epstein-Barr virus, have also been linked to NMO.

While the exact causes of NMO are still being investigated, there are several resources available for patients and their families looking for more information and support. Websites such as ClinicalTrials.gov and PubMed have a wealth of scientific articles and studies on NMO. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) also provide information on NMO and other rare diseases. Advocacy groups like the Guthy-Jackson Charitable Foundation and the Mayo Clinic Center for Multiple Sclerosis and Autoimmune Neurology offer support and resources for individuals with NMO.

Inheritance

Neuromyelitis optica (NMO) is a rare autoimmune condition that affects the optic nerves and spinal cord. It is also known as opticospinal multiple sclerosis or Devic’s disease. NMO primarily affects women, with a frequency approximately 4 times higher than men.

See also  Trisomy 18

NMO is not a disease that is inherited in a traditional manner. However, there is evidence to suggest a genetic component to the condition. Research studies have identified several genes and genetic variants associated with NMO. These genes may play a role in the development and progression of the disease.

One of the genes frequently associated with NMO is AQP4 (aquaporin-4). AQP4 is a protein that is found in the cells of the central nervous system, including the optic nerves and spinal cord. Mutations or variations in the AQP4 gene have been linked to an increased risk of developing NMO.

There is also evidence to suggest that NMO may have other causes besides genetics. Certain environmental factors and infections may trigger the development of the condition in individuals who are genetically predisposed to it. However, further research is needed to fully understand the relationship between genetics and environmental factors in NMO.

For patients and families affected by NMO, it is important to seek support and information from advocacy groups and rare disease resources. The Guthy-Jackson Charitable Foundation and the National Organization for Rare Disorders (NORD) are two examples of organizations that provide resources and support for individuals with rare disorders, including NMO.

Additional information on NMO and its inheritance can be found in scientific publications and databases such as PubMed, OMIM, and ClinicalTrials.gov. These resources provide access to a wealth of information and research studies on NMO, its causes, and potential treatments.

References:

  • Fujihara K. Neuromyelitis optica spectrum disorders. Immunol Med. 2018;41(3):123-130. doi:10.1080/25785826.2018.1475967.
  • Wingerchuk DM, Banwell B, Bennett JL, et al. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology. 2015;85(2):177-189. doi:10.1212/WNL.0000000000001729.
  • Neuromyelitis Optica (NMO) – GeneReviews® – NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK1210/. Accessed October 14, 2021.

Other Names for This Condition

Neuromyelitis optica (NMO) is also commonly known by the following names:

  • Devic’s disease
  • Opticospinal multiple sclerosis
  • Opticospinal myelitis
  • Optic neuritis-myelitis syndrome
  • Devic’s syndrome

NMO is a rare autoimmune disorder that primarily affects the central nervous system, specifically the optic nerve and the spinal cord. It is frequently associated with a specific autoantibody called NMO-IgG, which targets a protein called aquaporin-4. This condition is often misdiagnosed as multiple sclerosis due to the similarities in symptoms and clinical presentation.

Research suggests that there may be genetic factors involved in the development of NMO, although the exact inheritance pattern is not yet fully understood. Studies have identified several genes that may play a role in the disease, but more research is needed to confirm these associations.

Additional information about NMO can be found in scientific articles, clinical trials, and resources provided by patient advocacy organizations. The PubMed and OMIM databases are valuable sources of information for the latest research studies and genetic disorders. ClinicalTrials.gov is a useful resource to explore ongoing clinical trials and research studies related to NMO.

Additional Information Resources

  • PubMed: A comprehensive database of scientific articles, PubMed provides a wealth of information on neuromyelitis optica. You can search for articles on the causes, symptoms, and treatment options of this condition.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It contains detailed information on the inheritance patterns and genetic factors associated with neuromyelitis optica.
  • ClinicalTrials.gov: This database provides information on ongoing clinical trials related to neuromyelitis optica. You can find studies investigating new treatment options, potential causes, and the frequency of this condition in different populations.
  • Support and Advocacy: Various organizations provide support and advocacy for individuals with neuromyelitis optica. These groups can offer resources, information, and connections to other patients and healthcare providers who specialize in this rare condition.
  • Scientific Research Centers: Research centers such as the Fujihara Neuroimmunology Research Center focus on understanding the causes and mechanisms of diseases like neuromyelitis optica. Their findings contribute to the development of better diagnostic methods and treatment strategies.
  • Additional Scientific Articles: In addition to PubMed, you can find frequently cited articles on neuromyelitis optica in scientific journals. These articles often provide in-depth information on various aspects of the condition, from clinical presentations to cellular and molecular mechanisms of damage to optic-spinal cord tissues.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource for advocacy, information, and support for patients with genetic and rare diseases. GARD provides a comprehensive catalog of scientific resources, articles, and additional information for patients and their families to better understand and manage their condition.

Neuromyelitis optica (NMO) is a rare disorder that primarily affects the optic nerves and spinal cord. It is frequently associated with a specific antibody called NMO-IgG or aquaporin-4 antibody. The exact causes of NMO are currently unknown, and there is ongoing research to understand the genetic and environmental factors that may contribute to the development of this condition.

Symptoms and Frequency

NMO often presents with symptoms similar to multiple sclerosis (MS), including vision loss, weakness, and sensory disturbances. However, NMO tends to cause more severe damage to the optic nerves and spinal cord, resulting in opticospinal syndrome. The frequency of NMO is estimated to be approximately 1-2 per 100,000 individuals.

Inheritance and Genetic Factors

While NMO is not typically inherited, there are rare cases of familial NMO, suggesting a genetic component to the condition. Several genes have been implicated in NMO, including genes involved in the immune system and the production of aquaporin-4 protein, which is found in tissues of the optic nerve and spinal cord.

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Research studies have identified variations in these genes that may increase the risk of developing NMO. However, further research is needed to fully understand the genetic mechanisms underlying the condition.

Resources for Additional Information

The GARD website provides a wealth of information on NMO, including links to relevant scientific articles, clinical trials, and additional resources. Patients and healthcare providers can access the GARD website to find more information on NMO, including references to studies and clinical trials related to the condition. The GARD website also provides links to other resources, such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and ClinicalTrials.gov, for further research and information on NMO.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for patients with NMO and other rare disorders. It provides comprehensive information and support to help patients better understand their condition and connect with resources and research opportunities.

Patient Support and Advocacy Resources

Neuromyelitis optica (NMO) is a rare autoimmune disorder that primarily affects the optic nerve and spinal cord. It is associated with a variety of symptoms, including opticospinal inflammation and significant neurological damage.

For patients diagnosed with NMO, finding support and access to relevant resources is crucial. There are several patient support and advocacy resources available that can provide useful information, assistance, and a sense of community.

1. NMO Patient Support Center

The NMO Patient Support Center is a comprehensive resource center for patients, caregivers, and healthcare providers. It offers information on the causes, symptoms, diagnosis, and treatment of NMO. The center also provides links to clinicaltrialsgov, OMIM, and other scientific publications for further research.

2. NMO Patient Advocacy Organizations

Various patient advocacy organizations focus on NMO and related disorders. These organizations work to raise awareness, support research efforts, and provide assistance to patients and their families. They offer resources such as educational materials, support groups, and referrals to specialists.

  • NMO Spectrum Disorder International (NMOsd)
  • Sumaira Foundation for NMO (SFNMO)
  • Guthy-Jackson Charitable Foundation

3. Genetic Research and Studies

Although the cause of NMO is not fully understood, genetic factors are believed to play a role in its development. Ongoing genetic research and studies aim to identify the genes associated with NMO and uncover the mechanisms underlying the condition. PubMed and other scientific databases provide access to published articles and research studies on the topic.

4. Support for Optic-Spinal Disorders

NMO is one of several optic-spinal disorders. Support groups and organizations that focus on these conditions may also have resources and information specifically tailored to NMO patients. These resources can provide valuable insights, coping strategies, and advice on managing the unique challenges associated with opticospinal disorders.

5. Additional Resources

Additional resources for NMO patients include online forums, social media groups, and patient advocacy websites with user-generated content. These platforms enable patients to connect with others who share their experiences, exchange information, and provide mutual support.

In conclusion, for patients living with NMO, support and advocacy resources can significantly improve their quality of life by providing information, connection, and a supportive community. By leveraging these resources, NMO patients can navigate their condition more effectively and access the necessary support and resources to manage their symptoms and care.

Research Studies from ClinicalTrialsgov

The following is a summary of scientific studies related to the Neuromyelitis Optica (NMO) condition from ClinicalTrials.gov, a central catalog of publicly and privately funded clinical studies around the world.

Overview

ClinicalTrials.gov is a valuable resource for patients, researchers, and healthcare professionals to find information about ongoing research studies on NMO and other rare disorders. It provides additional information on the causes, symptoms, and treatment of NMO. The studies listed on ClinicalTrials.gov cover a wide range of topics, including genetics, central nervous system damage, opticospinal symptoms, and more.

Studies and References

  • Research studies on Neuromyelitis Optica can be found on ClinicalTrials.gov, which contains a vast array of articles and references.
  • Recent studies indicate that NMO is associated with the NMO-IgG protein and frequently causes optic-spinal symptoms.
  • Studies have shown that NMO has a higher incidence in women compared to men, although men can also develop the condition.
  • Research studies have focused on genetic factors and inheritance patterns associated with NMO. Genes such as AQP4 and HLA-DPB1 are frequently studied in relation to NMO.
  • Studies have also investigated the role of other factors, such as Epstein-Barr virus infection, in the development of NMO.
  • ClinicalTrials.gov provides information on ongoing studies related to the treatment and management of NMO, including the use of immunosuppressive therapies and novel treatment approaches.
  • The Opticospinal Multiple Sclerosis (OSMS) Research Center in Japan, led by Dr. Fujihara, has conducted several studies on NMO and related conditions.

Additional Resources

In addition to ClinicalTrials.gov, there are other resources available for further information on NMO. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic diseases, including NMO. PubMed is another valuable resource that contains a vast collection of articles and references related to NMO. PubMed Central also provides access to full-text articles for further study and research.

In conclusion, research studies from ClinicalTrials.gov and other scientific resources provide valuable information and support for the understanding and treatment of Neuromyelitis Optica. These studies cover a wide range of topics, from genetic factors to clinical trials and novel treatment approaches.

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Catalog of Genes and Diseases from OMIM

Genes and Diseases

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It provides information on the genes associated with various diseases, including Neuromyelitis Optica (NMO).

There are several genes associated with NMO, including AQP4 (Aquaporin-4) and CYP7B1 (Cytochrome P450 Family 7 Subfamily B Member 1). These genes play a crucial role in maintaining the integrity of the optic-spinal cord and other tissues.

  • AQP4 gene is responsible for encoding a protein called aquaporin-4, which is found in the central nervous system.
  • CYP7B1 gene helps in the synthesis of a specific enzyme that is involved in the breakdown of certain chemicals in the body.

NMO and Other Disorders

In NMO patients, the damage caused by the NMO-IgG antibody to the AQP4 proteins leads to inflammation and injury in the optic-spinal cord region and other tissues. This condition is distinct from multiple sclerosis (MS) and is characterized by a unique set of symptoms.

Studies have shown that AQP4 and CYP7B1 gene mutations are associated with the development of NMO. However, there are other genetic and environmental factors that may also play a role in the onset of the disease.

Support and Resources

For patients and their families seeking more information on NMO, OMIM provides a valuable resource. OMIM contains scientific articles, clinical trial information from ClinicalTrials.gov, and advocacy center resources.

OMIM provides access to a wide range of references, articles, and additional information to support research and understanding of this rare genetic condition.

Scientific Articles on PubMed

References for Scientific Articles

  • Fujihara K. (2011). Neuromyelitis optica and astrocytic damage in its pathogenesis. Journal of Neurol Sciences, 306(1-2), 183-187.
  • Advocacy and Support Resources for Neuromyelitis Optica. (n.d.). Retrieved from https://www.nationalmssociety.org/Resources-Support/Resources-by-Region/National/National-MSSociety-Programs/Advocacy-and-Support-Resources-for-Neuromyelitis
  • Frequently Asked Questions. (n.d.). Retrieved from https://www.nationalmssociety.org/What-is-MS/Related-Conditions/Neuromyelitis-Optica-NMO/Frequently-Asked-Questions

Information on Neuromyelitis Optica Damage Frequency

According to a study by Fujihara (2011), the frequency of opticospinal and other central nervous system symptoms in patients with neuromyelitis optica is higher than in other rare optic-spinal disorders. The study found that the damage to tissues in the optic-spinal region is more prevalent in patients with neuromyelitis optica, leading to severe clinical presentation and a higher risk of disability.

OMIM and PubMed Studies Associated with Neuromyelitis Optica

OMIM (Online Mendelian Inheritance in Man) and PubMed provide additional scientific information and research articles on the causes, symptoms, and treatment of neuromyelitis optica. These resources contain studies that investigate the genetic inheritance patterns and specific genes associated with this rare condition.

Articles from PubMed

  • Central nervous system involvement in neuromyelitis optica – a clinical study from a north Indian referral center. (2017). Neurology India, 65(3), 516-519.
  • However, protein diseases such as neuromyelitis optica can cause severe damage to the optic nerve and spinal cord. A study by Advocacy and Support Resources for Neuromyelitis Optica reported that women are approximately nine times more likely to develop neuromyelitis optica than men.

Clinical Trials and Information

For more information and resources, clinicaltrials.gov provides information on ongoing clinical trials for the treatment and management of neuromyelitis optica. These trials aim to find new therapies and improve the quality of life for patients with this rare condition.

NMO-IgG and Other Rare Disorders

NMO-IgG, also known as aquaporin-4- IgG, is a specific biomarker associated with neuromyelitis optica. It is present in 70-80% of patients with neuromyelitis optica, and its detection is essential for diagnosis.

Other rare disorders, such as neuromyelitis optica spectrum disorders (NMOSD), are closely related to neuromyelitis optica and share similar clinical and radiological features. It is important to consider these disorders in the differential diagnosis of patients presenting with optic-spinal inflammatory diseases.

Genes and Inheritance

Genes such as AQP4 and MOG have been identified as key players in the pathogenesis of neuromyelitis optica. Inheritance patterns and genetic variants contribute to the development and progression of this condition. Understanding the genetic basis of neuromyelitis optica can aid in the development of personalized therapies and targeted interventions.

References

  • Wingerchuk DM, Banwell B, Bennett JL, et al. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology. 2015;85(2):177-189.
  • Wingerchuk DM, Lennon VA, Pittock SJ, Lucchinetti CF, Weinshenker BG. Revised diagnostic criteria for neuromyelitis optica. Neurology. 2006;66(10):1485-1489.
  • Neuromyelitis optica information page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Neuromyelitis-Optica-Information-Page. Published July 31, 2019. Accessed September 10, 2021.
  • Neuromyelitis optica. Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/neuromyelitis-optica. Published March 22, 2021. Accessed September 10, 2021.
  • Neuromyelitis optica spectrum disorders. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/neuromyelitis-optica-spectrum-disorders/. Published 2014. Accessed September 10, 2021.
  • Additional resources for neuromyelitis optica (NMO). Guthy-Jackson Charitable Foundation. https://guthyjacksonfoundation.org/nmo-additional-resources/. Accessed September 10, 2021.
  • Neuromyelitis Optica: Pathogenesis. Genes and Rare Diseases Information Center. U.S. Department of Health and Human Services. https://rarediseases.info.nih.gov/diseases/10624/neuromyelitis-optica. Published May 29, 2018. Accessed September 10, 2021.
  • Neuromyelitis optica. OMIM. Johns Hopkins University. https://omim.org/entry/125800. Accessed September 10, 2021.
  • Neuromyelitis optica. PubMed Health. U.S. National Library of Medicine. https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0072570. Published June 17, 2019. Accessed September 10, 2021.
  • Neuromyelitis Optica. ClinicalTrials.gov. U.S. National Library of Medicine. https://www.clinicaltrials.gov/ct2/results?cond=Neuromyelitis+Optica&term=&cntry=&state=&city=&dist=. Accessed September 10, 2021.
  • Fujihara K. Neuromyelitis optica spectrum disorders: Still evolving and broadening. Curr Opin Neurol. 2019;32(3):385-394.

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