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Neuromyelitis Optica

Disease Details

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Description: Neuromyelitis optica is an autoimmune disorder where the body's immune system attacks the optic nerves and spinal cord, leading to inflammation and damage.
Type: Neuromyelitis optica (NMO) is an autoimmune disease. The exact mechanism of genetic transmission is not fully understood, but it is not typically classified as a hereditary disease. Genetic susceptibility may play a role, but environmental factors and other triggers are also significant.
Signs And Symptoms: The signs and symptoms of NMOSD depend on the neurologic structures the disease affects, and, to some extent, the antibodies involved.
Prognosis: Normally, some improvement appears in a few weeks, but severe residual symptoms and even disability may persist.The disease can be monophasic, i.e. a single episode with permanent remission afterwards. However, at least 85% of patients have a relapsing form of the disease with repeated attacks of transverse myelitis and/or optic neuritis. In patients with the monophasic form, the transverse myelitis and optic neuritis occur simultaneously or within days of each other. On the other hand, patients with the relapsing form are more likely to have weeks or months between the initial attacks, and to have better motor recovery after the initial transverse myelitis event. Relapses usually occur early, with about 55% of patients having a relapse in the first year and 90% in the first five years.It is possible that the relapsing form is related to the anti-AQP4+ seropositive status and the monophasic form related to its absence. Unlike MS, NMO rarely has a secondary progressive phase in which patients have increasing neurologic decline between attacks without remission. Instead, disabilities arise from the acute attacks.Approximately 20% of patients with monophasic NMO have permanent visual loss, and 30% have permanent paralysis in one or both legs. Among patients with relapsing NMO, 50% have blindness or paralysis within five years. In some patients (33% in one study), transverse myelitis in the cervical spinal cord resulted in respiratory failure and subsequent death. However, the spectrum of NMO has widened, due to improved diagnostic criteria; and the options for treatment have improved. As a result, researchers believe these estimates will be lowered.
Onset: The onset of neuromyelitis optica (NMO), also known as Devic's disease, typically occurs in adulthood, with the average age of onset around 40 years. However, it can affect individuals of any age, including children and the elderly. The disease often begins suddenly, with symptoms appearing over a few days. Key initial symptoms usually include vision loss due to optic neuritis and varying degrees of paralysis or sensory loss stemming from transverse myelitis.
Prevalence: The prevalence of neuromyelitis optica (NMO), also known as Devic's disease, varies widely depending on the population. It is generally considered a rare autoimmune disorder. Estimates suggest that NMO affects approximately 1 to 5 per 100,000 people. However, prevalence can be higher in certain ethnic groups and regions.
Epidemiology: Prevalence varies by region, ranging from 0.5 to 10 cases per 100,000 people. Unlike MS, prevalence has not been found to be related to latitude. NMO is more common in women than men, with women comprising over two-thirds of patients and more than 80% of those with the relapsing form of the disease.A retrospective study found that prevalence of neuromyelitis optica spectrum disorders was 1.5% among a random sample of neurological patients, with a MS:NMOSD ratio of 42:7. Among 13 NMOSD patients, 77% had long spinal cord lesions, 38% had severe optic neuritis, and 23% had brain or brainstem lesions. Only 56% had clinically definite NMO at follow-up.NMO is more common in Asians than Caucasians. In fact, Asian optic-spinal multiple sclerosis (OSMS) (which constitutes 30% of the cases of MS in Japan) has been suggested to be identical to NMO (differences between OSMS and classic MS in Japanese patients). In the indigenous populations of tropical and subtropical regions, MS is rare; but when it appears, it often takes the form of OSMS.The majority of NMO patients have no affected relatives, and it is generally regarded as a nonfamilial condition.Rarely, NMO may occur in the context of other autoimmune diseases (e.g. connective tissue disorders, paraneoplastic syndromes) or infectious diseases. In some cases, the etiology remains unknown (idiopathic NMO).
Intractability: Neuromyelitis optica (NMO) is typically a chronic and relapsing disease that can be challenging to manage, but it is not necessarily intractable. Advances in treatments, including immunosuppressive therapies and newer monoclonal antibodies, have improved the ability to control disease activity and reduce relapses. Early and aggressive treatment can lead to better outcomes, though some patients may experience significant disability despite treatment.
Disease Severity: Neuromyelitis optica (NMO) severity varies among patients. Some may experience mild, infrequent relapses with minimal disability, while others suffer from severe, recurrent attacks that lead to significant neurological impairment. Early diagnosis and appropriate treatment are crucial in managing the disease and reducing the severity of relapses.
Healthcare Professionals: Disease Ontology ID - DOID:8869
Pathophysiology: Neuromyelitis optica (NMO), also known as Devic's disease, is primarily characterized by an autoimmune attack on the central nervous system, specifically targeting the optic nerves and spinal cord. The pathophysiology involves the presence of antibodies against aquaporin-4 (AQP4), a water channel protein found on astrocytes. When these antibodies bind to AQP4, they trigger an inflammatory response that leads to the destruction of astrocytes, subsequent demyelination, and axonal damage. This immune-mediated damage results in the severe clinical symptoms of optic neuritis and transverse myelitis, which are hallmarks of the disease. In some cases, other autoantibodies and immune mechanisms may also play a role.
Carrier Status: Neuromyelitis optica (NMO), also known as Devic's disease, is an autoimmune disorder that primarily affects the optic nerves and spinal cord. It is not typically described in terms of "carrier status" because it is not a hereditary condition passed down through carriers. Instead, the presence of specific antibodies, such as aquaporin-4 (AQP4) antibodies, is associated with the disease.
Mechanism: Neuromyelitis optica (NMO), also known as Devic's disease, is an autoimmune disorder that primarily targets the central nervous system, specifically the optic nerves and spinal cord.

**Mechanism:**
NMO is characterized by the immune system mistakenly attacking and damaging myelin, the protective covering of nerve fibers, leading to inflammation and loss of function in affected areas. The two primary clinical features are optic neuritis, which results in vision loss, and transverse myelitis, which causes weakness or paralysis in the limbs and sensory disturbances.

**Molecular Mechanisms:**
The underlying molecular mechanism involves the production of autoantibodies against aquaporin-4 (AQP4), a water channel protein highly expressed on astrocytes in the CNS. The binding of these antibodies, termed NMO-IgG, to AQP4 triggers a series of immune responses including:

1. **Complement Activation:** NMO-IgG binding leads to the activation of the complement cascade, resulting in the formation of the membrane attack complex. This process causes astrocyte damage and contributes to inflammation and demyelination.
2. **Cell-mediated Cytotoxicity:** The antibody-bound AQP4 also engages immune cells such as natural killer cells through their Fc receptors, promoting antibody-dependent cellular cytotoxicity. This exacerbates the damage to astrocytes and surrounding neural tissue.
3. **Inflammatory Mediators:** The interaction further recruits and activates various inflammatory cells, including macrophages and neutrophils, which release pro-inflammatory cytokines and reactive oxygen species, intensifying the immune response and tissue injury.

By targeting AQP4, these molecular processes disrupt the integrity of the blood-brain barrier, promote demyelination, and cause extensive injury to neurons and astrocytes, leading to the neurological deficits observed in NMO.
Treatment: There is no cure for NMO, but it is treatable. Some patients recover, but many are left with impairment of vision and limbs, which can be severe in some cases.
Compassionate Use Treatment: Neuromyelitis optica (NMO), also known as Devic's disease, is an autoimmune condition that primarily affects the spinal cord and optic nerves. Compassionate use treatments, off-label, and experimental treatments provide additional options for patients, particularly those who do not respond to standard therapies.

**Compassionate Use Treatment:**
1. **Inebilizumab**: This monoclonal antibody targets CD19 and has shown promise in reducing disease activity in NMO.
2. **Satralizumab**: An anti-IL-6 receptor monoclonal antibody, approved in some regions for NMO spectrum disorder, may be accessible as a compassionate use treatment elsewhere.

**Off-label Treatments:**
1. **Rituximab**: Commonly used off-label for NMO, this monoclonal antibody targets CD20 on B cells and can significantly reduce relapse rates.
2. **Mycophenolate Mofetil**: An immunosuppressive agent that has been used off-label for managing NMO.
3. **Azathioprine**: Though traditionally used for other autoimmune diseases, it is often prescribed off-label for NMO.

**Experimental Treatments:**
1. **Eculizumab**: A complement inhibitor originally used for conditions like paroxysmal nocturnal hemoglobinuria; in clinical trials, it has demonstrated efficacy in preventing NMO relapses.
2. **Tocilizumab**: An IL-6 receptor antagonist, currently under investigation for NMO, showing potential in reducing the severity and frequency of attacks.

These treatments reflect ongoing efforts to provide effective management options for NMO, but their use should always be guided by specialists familiar with up-to-date research and clinical trial data.
Lifestyle Recommendations: For individuals with Neuromyelitis Optica (NMO), adopting certain lifestyle habits can help manage symptoms and improve overall well-being:

1. **Medication Adherence**: Consistently follow medical advice and maintain regular check-ups with healthcare providers.
2. **Healthy Diet**: Eat a balanced diet rich in fruits, vegetables, lean proteins, and whole grains. Omega-3 fatty acids (found in fish) and antioxidants may also be beneficial.
3. **Hydration**: Stay well-hydrated to support overall health.
4. **Exercise**: Engage in regular, moderate exercise tailored to individual capabilities. This helps maintain muscle strength, flexibility, and cardiovascular health.
5. **Stress Management**: Practice stress-reducing techniques such as meditation, yoga, or deep-breathing exercises to manage emotional well-being.
6. **Adequate Sleep**: Ensure sufficient and quality sleep to aid recovery and maintain energy levels.
7. **Avoiding Triggers**: Identify and avoid potential triggers that may exacerbate symptoms, such as infections or extreme temperatures.
8. **Support Systems**: Maintain a network of support from family, friends, or support groups to cope with emotional and physical challenges.
9. **Assistive Devices**: Use mobility aids or other assistive devices as needed to maintain independence and safety.
10. **Education**: Stay informed about the condition and treatment options to make empowered health decisions.

Consult with healthcare providers for personalized advice tailored to specific needs.
Medication: The primary medications for treating neuromyelitis optica (NMO) include:

1. Immunosuppressive agents like azathioprine (Imuran) and mycophenolate mofetil (CellCept).
2. Monoclonal antibodies such as rituximab (Rituxan), eculizumab (Soliris), and inebilizumab (Uplizna).
3. Corticosteroids like prednisone are often used initially to manage acute attacks.

These medications help to reduce inflammation and prevent future relapses.
Repurposable Drugs: For neuromyelitis optica (NMO), several repurposable drugs have been identified. These drugs include:

1. **Rituximab**: A monoclonal antibody that targets CD20-positive B cells, often used in treatment of rheumatoid arthritis and certain cancers.
2. **Azathioprine**: An immunosuppressive medication that is also used in organ transplantation and autoimmune diseases.
3. **Mycophenolate mofetil**: Another immunosuppressant initially used to prevent organ transplant rejection.
4. **Methotrexate**: A chemotherapy agent and immune system suppressant.

Repurposing these drugs provides alternative treatment options that may improve outcomes for patients with NMO.
Metabolites: Neuromyelitis optica (NMO), also known as Devic's disease, is a central nervous system disorder primarily affecting the optic nerves and spinal cord. While specific metabolites are not typically used in the standard diagnosis of NMO, some studies suggest potential metabolic biomarkers could help in understanding the disease mechanisms. These might include alterations in amino acids, energy metabolism intermediates, and neurotransmitter levels. However, these findings are still under research and not yet established for clinical use.
Nutraceuticals: Currently, there is limited scientific evidence to support the use of nutraceuticals specifically for treating neuromyelitis optica (NMO). Standard treatment typically involves immunosuppressant and immunomodulatory therapies. If considering nutraceuticals, it is crucial to consult a healthcare provider to ensure they do not interfere with prescribed treatments.
Peptides: There is no clear, direct connection between peptides, nanomaterials, and the treatment or diagnosis of neuromyelitis optica (NMO). NMO is primarily managed with treatments aiming to suppress the immune system, such as corticosteroids, immunosuppressive agents, and monoclonal antibodies like rituximab. While research is ongoing in various fields, including the potential role of peptides and nanotechnology, these are not currently standard components of NMO management.