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Multiple Sclerosis

Disease Details

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Description: Multiple Sclerosis (MS) is a chronic autoimmune disease in which the immune system attacks the protective covering of nerves in the central nervous system, leading to communication problems between the brain and the rest of the body.
Type: Multiple sclerosis (MS) is an autoimmune disease. It does not follow a simple genetic transmission pattern like some monogenic diseases. Instead, it is considered to have a complex genetic inheritance, where multiple genetic and environmental factors contribute to the risk of developing the disease.
Signs And Symptoms: As MS lesions can affect any part of the central nervous system, a person with MS can have almost any neurological symptom or sign referable to the central nervous system.
Fatigue is one of the most common symptoms of MS. Some 65% of people with MS experience fatigue symptomatology, and of these some 15–40% report fatigue as their most disabling MS symptom.Autonomic, visual, motor, and sensory problems are also among the most common symptoms.The specific symptoms are determined by the locations of the lesions within the nervous system, and may include focal loss of sensitivity and/or changes in sensation in the limbs, such as feeling tingling, pins and needles, or numbness; limb motor weakness/pain, blurred vision, pronounced reflexes, muscle spasms, difficulty with ambulation, difficulties with coordination and balance (ataxia); problems with speech or swallowing, visual problems (optic neuritis manifesting as eye pain & vision loss, or nystagmus manifesting as double vision), fatigue, and bladder and bowel difficulties (such as urinary and/or fecal incontinence or retention), among others. When multiple sclerosis is more advanced, walking difficulties can occur and the risk of falling increases.Difficulties thinking and emotional problems such as depression or unstable mood are also common. The primary deficit in cognitive function that people with MS experience is slowed information-processing speed, with memory also commonly affected, and executive function less commonly. Intelligence, language, and semantic memory are usually preserved, and the level of cognitive impairment varies considerably between people with MS.Uhthoff's phenomenon, a worsening of symptoms due to exposure to higher-than-usual temperatures, and Lhermitte's sign, an electrical sensation that runs down the back when bending the neck, are particularly characteristic of MS, although may not always be present. Another presenting manifestation that is rare but highly suggestive of a demyelinating process such as MS is bilateral internuclear ophthalmoplegia, where the patient experiences double vision when attempting to move their gaze to the right & left.Some 60% or more of MS patients find their symptoms, particularly including fatigue, are affected by changes in their body heat.
Prognosis: The availability of treatments that modify the course of multiple sclerosis beginning in the 1990s, known as disease-modifying therapies (DMTs), has improved prognosis. These treatments can reduce relapses and slow progression, but as of 2022 there is no cure.The prognosis of MS depends on the subtype of the disease, and there is considerable individual variation in the progression of the disease. In relapsing MS, the most common subtype, a 2016 cohort study found that after a median of 16.8 years from onset, one in ten needed a walking aid, and almost two in ten transitioned to secondary progressive MS, a form characterized by more progressive decline. With treatments available in the 2020s, relapses can be eliminated or substantially reduced. However, "silent progression" of the disease still occurs.In addition to secondary progressive MS (SPMS), a small proportion of people with MS (10–15%) experience progressive decline from the onset, known as primary progressive MS (PPMS). Most treatments have been approved for use in relapsing MS; there are fewer treatments with lower efficacy for progressive forms of MS. The prognosis for progressive MS is worse, with faster accumulation of disability, though with considerable individual variation. In untreated PPMS, the median time from onset to requiring a walking aid is estimated as seven years. In SPMS, a 2014 cohort study reported that people required a walking aid after an average of five years from onset of SPMS, and were chair or bed-bound after an average of fifteen years.After diagnosis of MS, characteristics that predict a worse course are male sex, older age, and greater disability at the time of diagnosis; female sex is associated with a higher relapse rate. As of 2018, no biomarker can accurately predict disease progression in every patient. Spinal cord lesions, abnormalities on MRI, and more brain atrophy are predictive of a worse course, though brain atrophy as a predictor of disease course is experimental and not used in clinical practice as of 2018. Early treatment leads to a better prognosis, but a higher relapse frequency when treated with DMTs is associated with a poorer prognosis. A 60-year longitudinal population study conducted in Norway found a 7-year shorter life expectancy in MS compared with the general population and a rise in survival in MS during the observation period. Median life expectancy for RRMS patients was 77.8 years and 71.4 years for PPMS, compared to 81.8 years for the general population. Life expectancy for men was 5 years shorter than for women.
Onset: The onset of multiple sclerosis (MS) typically occurs between the ages of 20 and 40, but it can happen at any age. The onset can be sudden or gradual, with symptoms varying significantly among individuals.
Prevalence: Multiple sclerosis (MS) has an estimated prevalence of about 2.8 million people globally, which translates to roughly 35.9 per 100,000 people. Prevalence rates can vary significantly by region, with higher rates in North America and Europe compared to Asia and Africa.
Epidemiology: MS is the most common autoimmune disorder of the central nervous system. The latest estimation of the total number of people with MS was 2.8 million globally, with a prevalence of 36 per 100,000 people. Moreover, prevalence varies widely in different regions around the world. In Africa, there are 5 people per 100,000 diagnosed with MS, compared to South East Asia where the prevalence is 9 per 100,000, 112 per 100,000 in the Americas, and 133 per 100,000 in Europe.Increasing rates of MS may be explained simply by better diagnosis. Studies on populational and geographical patterns have been common and have led to a number of theories about the cause.MS usually appears in adults in their late twenties or early thirties but it can rarely start in childhood and after 50 years of age. The primary progressive subtype is more common in people in their fifties. Similarly to many autoimmune disorders, the disease is more common in women, and the trend may be increasing. As of 2020, globally it is about two times more common in women than in men, and the ratio of women to men with MS is as high as 4:1 in some countries. In children, it is even more common in females than males, while in people over fifty, it affects males and females almost equally.
Intractability: Multiple sclerosis (MS) is currently considered intractable because there is no cure for the disease. However, it is manageable with treatments that aim to modify the course of the disease, manage symptoms, and improve quality of life. Various medications can reduce the frequency and severity of relapses and slow disease progression, but they do not eliminate the disease entirely.
Disease Severity: The severity of multiple sclerosis (MS) can vary widely among individuals, ranging from mild to debilitating. It depends on factors like the type of MS, the frequency and intensity of relapses, and the degree of neurological damage. Early diagnosis and appropriate treatment can help manage symptoms and modify the disease course.

There is no direct connection between MS and nanotechnology (nan). However, research into nanotechnology is ongoing for potential future applications in diagnosing and treating MS.
Healthcare Professionals: Disease Ontology ID - DOID:2377
Pathophysiology: Multiple sclerosis is an autoimmune disease, primarily mediated by T-cells. The three main characteristics of MS are the formation of lesions in the central nervous system (also called plaques), inflammation, and the destruction of myelin sheaths of neurons. These features interact in a complex and not yet fully understood manner to produce the breakdown of nerve tissue, and in turn, the signs and symptoms of the disease. Damage is believed to be caused, at least in part, by attack on the nervous system by a person's own immune system.
Carrier Status: Multiple sclerosis (MS) is not typically considered a genetic disease in the way conditions like cystic fibrosis or sickle cell anemia are. There isn't a carrier status for MS because it is not passed down in a straightforward Mendelian fashion. Instead, it is an autoimmune condition influenced by a combination of genetic and environmental factors. Certain genetic markers, such as variations in the HLA-DRB1 gene, have been associated with an increased risk of developing MS, but having these markers does not mean one will definitely develop the disease.
Mechanism: Multiple sclerosis (MS) is a chronic autoimmune disease that affects the central nervous system (CNS).

**Mechanism:**
1. **Autoimmune Attack:** MS involves an aberrant immune response where the immune system mistakenly attacks the myelin sheath that insulates nerve fibers in the CNS.
2. **Demyelination:** This immune attack leads to inflammation and destruction of the myelin sheath, resulting in disrupted nerve signal transmission.
3. **Axonal Damage:** Beyond myelin, the axons (nerve fibers) themselves can also become damaged, leading to permanent neural deficits.

**Molecular Mechanisms:**
1. **T Cells:** Autoreactive T cells cross the blood-brain barrier and attack myelin. They release cytokines, fostering inflammation.
2. **B Cells and Antibodies:** B cells contribute by producing myelin-targeting antibodies and presenting antigens to T cells.
3. **Cytokines and Chemokines:** These chemical messengers amplify the immune response, promoting further infiltration of immune cells into the CNS.
4. **Microglia and Macrophages:** These resident and recruited immune cells in the CNS exacerbate damage by releasing pro-inflammatory factors and directly attacking myelin.
5. **Oxidative Stress and Mitochondrial Dysfunction:** Chronic inflammation leads to oxidative stress and mitochondrial damage, contributing to neural loss and impaired repair mechanisms.

The interplay of these mechanisms results in the characteristic lesions in the CNS associated with MS, which manifest as a range of neurological symptoms.
Treatment: Treatment for multiple sclerosis (MS) involves managing symptoms, slowing disease progression, and improving quality of life. Common approaches include:

1. Disease-Modifying Therapies (DMTs): Medications like interferons, glatiramer acetate, and monoclonal antibodies (e.g., ocrelizumab, natalizumab) aim to reduce the frequency and severity of relapses.

2. Symptomatic Treatments: Medications to address specific symptoms such as muscle relaxants for spasticity, corticosteroids for acute relapses, and medications for fatigue, pain, and bladder issues.

3. Physical and Occupational Therapy: Exercises and activities designed to improve mobility, strength, and daily functioning.

4. Lifestyle and Support: Balanced diet, regular exercise, stress management, and support from counseling or support groups.

There is currently no cure for MS, but these treatments can help manage the condition effectively.
Compassionate Use Treatment: Compassionate use treatment allows patients with serious or life-threatening conditions to gain access to investigational drugs outside clinical trials when no comparable or satisfactory alternative therapy options are available. For multiple sclerosis (MS), several experimental treatments fall under this category.

Off-label or experimental treatments for MS that have been investigated include:

1. **Hematopoietic Stem Cell Transplantation (HSCT)**: This involves using the patient's own stem cells to reboot the immune system.

2. **Monoclonal Antibodies**: Medications like rituximab and alemtuzumab, which are typically used for other conditions, have been found to potentially help in specific cases of MS.

3. **Mesenchymal Stem Cell Therapy**: This uses stem cells derived from bone marrow to reduce inflammation and promote repair.

4. **Cladribine**: An anti-cancer medication explored for its potential effectiveness in MS.

5. **High-Dose Biotin Therapy**: Biotin (vitamin B7) in high doses is being studied for its potential benefits in progressive MS.

6. **Antivirals**: Some antiviral drugs are under investigation for their potential to manage MS, given the hypothesis that viral infections might trigger or exacerbate the disease.

These treatments are generally pursued when standard therapies are ineffective or when the disease progresses aggressively. Always consult with a healthcare provider to discuss potential risks and benefits before considering such treatments.
Lifestyle Recommendations: ### Multiple Sclerosis: Lifestyle Recommendations

1. **Regular Exercise**: Engage in activities like walking, swimming, or yoga to improve cardiovascular health, strength, and flexibility.
2. **Balanced Diet**: Eat a diet rich in fruits, vegetables, whole grains, and lean proteins to maintain overall health and manage weight.
3. **Adequate Sleep**: Aim for 7-9 hours of sleep per night to help manage fatigue.
4. **Stress Management**: Practice stress-reducing techniques such as mindfulness, meditation, or deep-breathing exercises.
5. **Hydration**: Drink plenty of water throughout the day to stay hydrated.
6. **Preventive Care**: Stay up to date with vaccinations and regular health check-ups.
7. **No Smoking**: Avoid smoking, as it may exacerbate MS symptoms and progression.
8. **Moderate Alcohol**: Limit alcohol consumption, as it can aggravate symptoms and interact with medications.
9. **Support Networks**: Engage with support groups, family, and friends for emotional and practical support.
10. **Heat Management**: Use cooling garments and stay in air-conditioned environments if heat worsens symptoms.

Always consult with your healthcare provider before making significant lifestyle changes.
Medication: Medications that influence voltage-gated sodium ion channels are under investigation as a potential neuroprotective strategy because of hypothesized role of sodium in the pathological process leading to axonal injury and accumulating disability. There is insufficient evidence of an effect of sodium channel blockers for people with MS.
Repurposable Drugs: Repurposable drugs for multiple sclerosis (MS) include:

1. **Simvastatin**: Originally used to lower cholesterol, simvastatin has shown potential in reducing brain atrophy and slowing disease progression in MS.
2. **Naltrexone**: Typically used for addiction treatment, low-dose naltrexone may have immunomodulatory effects that can benefit MS patients.
3. **Metformin**: Commonly used for type 2 diabetes, metformin is being studied for its potential to promote remyelination in the central nervous system, which could benefit people with MS.

"NAN" does not appear to be relevant in this context. If it is an abbreviation or specific term, please provide additional details.
Metabolites: Multiple sclerosis (MS) is associated with various metabolic changes. Some key metabolites that have been studied in relation to MS include:

1. **Choline**: Altered levels of choline and its derivatives have been observed, indicating changes in membrane turnover and myelin integrity.

2. **N-acetylaspartate (NAA)**: Reduced levels of NAA are often noted, reflecting neuronal and axonal loss or dysfunction.

3. **Myoinositol**: Increased levels of myoinositol may indicate gliosis, an increase in the number of glial cells, particularly astrocytes.

4. **Lactate**: Elevated levels of lactate can be a marker of anaerobic glycolysis and mitochondrial dysfunction in the brain.

These metabolic changes can be detected using techniques like magnetic resonance spectroscopy (MRS) and are crucial for understanding the pathophysiology of MS as well as for developing potential biomarkers for diagnosis and treatment monitoring.
Nutraceuticals: Nutraceuticals, such as omega-3 fatty acids, vitamin D, and antioxidants, are being researched for their potential benefits in multiple sclerosis (MS). These compounds may help to manage inflammation and oxidative stress, which are believed to play a role in the disease's progression. However, more comprehensive studies are needed to confirm their effectiveness and establish appropriate dosages. Always consult healthcare professionals before adding any nutraceuticals to your regimen.
Peptides: Peptides and nanoparticles (nan) are emerging areas of research in the treatment and understanding of multiple sclerosis (MS). Peptides can be used to modulate immune responses, potentially reducing the autoimmune attacks on myelin. Nanoparticles may serve as delivery systems for drugs or therapeutic agents, improving their efficacy and reducing side effects by targeting them specifically to affected sites in the central nervous system. Together, these advances hold promise for more effective and targeted MS therapies.