Multiple Sclerosis (MS)

Multiple sclerosis is a disease that causes demyelination of the brain and spinal cord nerve cells. When this occurs, axons (the parts of the nerve cells that conduct impulses to other cells) don't work as well.

• Myelin acts as insulation around electrical impulses.
• As more areas or nerves are affected by this loss of myelin, patients develop symptoms because the ability of axons to conduct impulses is diminished or lost.

The specific symptom that someone experiences are related to the area that has been affected. As demyelination takes place, areas of inflammation and subsequent injury can be identified; these areas of injury are called lesions or plaques and are readily apparent in magnetic resonance imaging (MRI) studies.

What does MS feel like?

As mentioned in the multiple sclerosis definition above, MS is a chronic condition that disrupts communication between the brain, spinal cord, and the rest of the body. As the disease progresses, this can lead to a wide range of physical, cognitive, and emotional symptoms that vary from person to person. Common experiences include fatigue, tingling or numbness, vision problems (such as blurred or double vision), muscle weakness, and difficulty with balance or coordination.

Children and teenagers can have MS (pediatric MS). It is estimated that about 8,000 to 10,000 children and teens up to 18 years old have been diagnosed with pediatric MS. Moreover, an additional 10,000 to 15,000 children and teens have had at least one symptom of the disease.

Almost all children diagnosed with pediatric MS have the relapsing-remitting MS type; however, additional symptoms often not experienced in adults with MS may include seizures and mental status changes like lethargy.

Children and teens with multiple sclerosis are treated with the same therapies as adults, but they are considered “off label” for treating children, (not an FDA approved use of the drug, but it is/may be effective for some people with the condition). Small studies suggest the IV drug natalizumab (Tysabri) is safe to use in children with MS who have not responded to other treatments. Discuss all of your child’s MS treatments or home therapies with his or her healthcare team.

Multiple sclerosis symptoms are dependent on the area of the destruction of the myelin sheath protecting the nerves (demyelination).

Early signs of multiple sclerosis often begin subtly and can be mistaken for other conditions.

Early signs and symptoms are vision problems like double vision or vision loss.

Other symptoms and signs may include:

• Visual changes, including loss of vision if the optic nerve has been affected
• Double vision
• A sensation or feeling of numbness, tingling, or weakness. The weakness may be mild or severe enough to cause paralysis of one side of the body
• Vertigo (a sense of spinning) or dizziness
• Lack of coordination of the arms or legs, problems with balance, problems walking, and falling
• Slurred speech
• A sense of an electrical charge traveling down the spine with neck flexion (Lhermitte sign)
• In some cases, a person may develop incontinence or even an inability to empty their bladder.
• As the condition progresses, some people are left with muscle spasticity or an involuntary painful contraction of certain muscles.

Recognizing the symptoms of MS early can help ensure timely diagnosis and treatment, potentially slowing disease progression.

While multiple sclerosis is considered an autoimmune disorder, the exact cause hasn't yet been found. There are many theories regarding the reason that people develop MS. These theories range from vitamin D deficiency to a viral infection. Even consuming too much salt is being looked at as a possible cause. However, none of these theories has been proven, and the cause of MS remains unknown. It's not contagious, and can't be passed from person to person.

Is multiple sclerosis an autoimmune disease? Yes, it occurs when the immune system mistakenly attacks the protective covering of nerves.

Researchers are also exploring what causes multiple sclerosis in females, as this condition affects women more frequently than men. It’s also important to recognize that multiple sclerosis symptoms in females can sometimes differ slightly from those in males, especially regarding hormonal influences or symptom onset.

Another possible contributor under investigation is gut microbiome imbalance, which may influence immune system behavior and play a role in MS development. Though still being studied, this adds another layer to understanding the potential complexity behind what causes MS.

Genetic factors don't seem to play a large role in the disease. Although people who have a first-degree relative with MS have a slightly higher risk of developing it themselves, this risk is felt to be modest.

People who live in northern latitudes (especially Northern European countries) were previously identified as having a higher incidence of MS. However, over the last 30 years, more cases of MS are now being diagnosed in more temperate regions such as Latin America. Moreover, living in an area until approximately age 15 seems to give someone a relative risk of developing MS in that area. People younger than 15 who move to assume the risk of the new location.

Lifestyle factors are not risk factors for developing MS, for example, diet, exercise, and tobacco use, unlike conditions in which these risk factors are very important, such as stroke, heart disease, or diabetes.

• Multiple sclerosis occurs predominantly in younger persons, with those aged 15 to 60 most likely to be diagnosed.
• The average age of diagnosis is about 30 years; however, multiple sclerosis has been identified at all ages.
• While multiple sclerosis can occur in children, this is very rare.
• About 2.5 million people worldwide have been diagnosed with MS; of those, about 400,000 live in the United States.
• Women are about twice as likely as men to develop multiple sclerosis.

There are four types of multiple sclerosis.

1. Relapsing-remitting multiple sclerosis (RRMS)

Relapsing-remitting multiple sclerosis (RRMS) is the most common form of MS.

People with this form of disease develop symptoms that respond to treatment and then resolve. The development of symptoms is often referred to as an exacerbation of the disease. Episodes of remission may last for weeks to years. Among the different types of multiple sclerosis, relapsing remitting multiple sclerosis often begins in early adulthood and is marked by periods of flare-ups followed by recovery.

2. Secondary-progressive multiple sclerosis (SPMS)

Secondary-progressive multiple sclerosis (SPMS) is diagnosed when the problems caused by an exacerbation don't fully resolve during a remission. This often occurs in patients who were initially diagnosed with relapsing remitting multiple sclerosis (RRMS). Over time, patients are identified with progressive debility.

3. Primary-progressive multiple sclerosis (PPMS)

Primary-progressive multiple sclerosis (PPMS) progresses over time, without episodes of remission or improvement of symptoms. This type of multiple sclerosis tends to be more gradual and steadier in progression.

4. Progressive-relapsing multiple sclerosis (PRMS)

Progressive-relapsing multiple sclerosis (PRMS) is identified when patients experience escalating symptoms over time, as well as intermittent episodes of remission. Though rare, it is considered one of the more aggressive types of multiple sclerosis.

Understanding the different types of multiple sclerosis, especially how relapsing remitting multiple sclerosis differs from progressive forms, helps patients and caregivers better manage symptoms, treatment plans, and long-term expectations.

Patient history is important because many people with multiple sclerosis have experienced various symptoms, which were ignored or attributed to other events or illnesses. If a person recalls no prior symptoms, the remaining medical history is needed to exclude other conditions that might mimic multiple sclerosis.

Once the history is obtained, a complete physical examination is required. Doctors look for signs of injury to the central nervous system (either the brain or spinal cord); findings on the examination can help a doctor determine which area of the central nervous system (CNS) is involved.

Imaging studies help to confirm a diagnosis of multiple sclerosis. The most common test done is a magnetic resonance image or MRI. CT scans, while helpful in finding some brain injuries, are unable to reveal the changes associated with multiple sclerosis with as much detail as an MRI. MRIs can be used to image the brain and the spinal cord.

A spinal tap, or lumbar puncture, is done to collect a small amount of cerebrospinal fluid. Testing can be done on this fluid to confirm the presence of protein, inflammatory markers, and other substances. With the routine use of MRI, performing a spinal tap is not considered mandatory, unless there are questionable findings on the MRI or other questions to answer.

Evoked potential testing (visual evoked potentials, brainstem auditory evoked potentials, and somatosensory evoked potentials) can show slowed response times in the optic nerve, the auditory nerve, the spinal cord, or the brainstem. While helpful, these tests are not specific for changes seen in multiple sclerosis.

When multiple sclerosis is suspected, blood work and testing to exclude other conditions, such as Lyme disease, vasculitis, lupus, human immunodeficiency virus (HIV), and processes that lead to multiple strokes, are often done as well.

Many factors go into consideration for the treatment of a patient who has multiple sclerosis. During an acute exacerbation, steroids given through an IV are commonly prescribed, and often help patients recover more rapidly. If a patient cannot receive steroids, plasma exchange can be used.

Once a diagnosis has been confirmed, disease-modifying therapy is often recommended. This therapy may decrease the number of exacerbations that a patient experiences or decrease the severity of an exacerbation. In addition, many of these therapies have been shown to decrease the potential for developing a long-term disability.

Interferon therapies

Interferon therapies (Avonex, Betaseron, Extavia, Rebif, Plegridy) must be given by an injection. The frequency of injections ranges from every other day to every other week. Some patients develop flu-like symptoms or nodules under the skin following each injection; other patients may develop severe depression.

glatiramer acetate (Copaxone)

Glatiramer acetate (Copaxone) works along a different path than the interferons, but is still thought to modify the immune system and has been shown to reduce relapses. Other oral medications have been approved to treat multiple sclerosis are fingolimod (Gilenya) and teriflunomide (Aubagio).

Although these medications are dosed orally, there is a risk of significant side effects:

• including heart disease (fingolimod), or
• severe liver injury (teriflunomide).

Another oral agent, dimethyl fumarate (Tecfidera), may function by preventing immune cells from attacking cells located in the central nervous system, and may have anti-inflammatory properties.

Dalfampridine (Ampyra) has been approved to help with walking problems caused by multiple sclerosis. The specific way in which this medication works is unknown. There is a risk that this medication may cause seizures, even in patients without a history of seizure or epilepsy. As such, the use of this medication needs to be monitored carefully.

natalizumab (Tysabri)

Natalizumab (Tysabri) is a monoclonal antibody, and has been approved for patients who have relapsing-remitting multiple sclerosis. Because of significant side effects, including the risk of severe brain infection, it is typically used for patients who have failed to respond to one of the interferon products or who have been diagnosed with very active disease.

alemtuzumab (Lemtrada)

Alemtuzumab (Lemtrada) can also decrease the relapse rate in relapsing-remitting multiple sclerosis. However, because of the risk of serious side effects, it is currently limited to use in patients who have failed other agents.

Mitoxantrone (Novantrone) is a chemotherapy agent for leukemia or prostate cancer, which has been shown to be of benefit in treating secondary-progressive multiple sclerosis, progressive-relapsing multiple sclerosis, and advanced relapsing-remitting multiple sclerosis. Of note, mitoxantrone and Betaseron are the only medications identified to help patients with relapsing-primary multiple sclerosis.

cladribine (Mavenclad)

Cladribine (Mavenclad) oral tablets is a drug used to treat two forms of multiple sclerosis; relapsing forms that include relapsing-remitting disease and active secondary progressive disease in adults. Generally, cladribine is used in people with MS who have tried other multiple sclerosis medications that were not tolerated well or ineffective. People with clinically isolated syndrome not take cladribine.

People with multiple sclerosis are believed to have the same life expectancy as those without multiple sclerosis. However, those with severe, progressive forms of MS may have problems caused by the disability that may lead to complications such as pneumonia.

If patients are not treated, over 30% may develop pronounced problems with mobility. It is not yet known what the long-term outcome of patients who begin treatment at an early stage of their disease will be.

There are two extremes in multiple sclerosis. The first is a "benign" syndrome in which patients have numerous lesions identified on MRI imaging, but have few -- if any -- symptoms, even decades after their diagnosis. At the opposite end of the spectrum is a condition identified as the Marburg variant of multiple sclerosis, where rapidly progressive symptoms are seen, and death may occur after a concise time.

Without a clearly defined cause of multiple sclerosis, ways to prevent this disease have not yet been identified. Exercising regularly, getting sufficient sleep, or eating healthy meals will be of long-term benefit for many people, but have not been shown to be of help to prevent the development of multiple sclerosis.

Speech pathologist: A speech pathologist can help patients improve speech clarity, and some can even work on cognitive exercises for patients who have problems with memory. If swallowing problems are identified, speech pathologists can help determine the cause and whether therapy will help improve swallowing ability or if dietary changes are needed.

Primary care provider: A primary care provider such as a family doctor or internist is needed to help keep patients with MS in good health by keeping track of blood pressure, cholesterol, glucose, immunization status, and other factors.

Radiologist: A radiologist reads the imaging studies obtained to monitor the status of patients with MS by comparing current studies to prior studies, doctors can determine if the disease has stabilized.

Physical therapist: Physical therapists work to help patients regain mobility or strength. They also help patients determine how to maintain their strength and mobility after a chronic disease is diagnosed.

Occupational therapist: Occupational therapists often work closely with physical therapists to help with mobility issues due to MS. Moreover, these therapists also teach people with MS how to adjust or modify things in their surroundings and homes by using tools or actions to safely perform daily activities.

Clinical psychologist: A clinical psychologist can help patients with MS who are experiencing depression, anxiety, or who need help in coping with their diagnosis. Psychologists provide counseling or psychotherapy; they do not prescribe medications. On occasion, they work closely with psychiatrists who determine if medications are needed, and if so, which medications to prescribe.

Neurologist: A neurologist is a doctor who has specialized training in diseases of the brain and nervous system. Some neurologists have additional training in treating multiple sclerosis.

Many areas related to the diagnosis and treatments of multiple sclerosis are being explored. These include a more in-depth analysis of genetic factors, including factors, which may help with the diagnosis and prediction of patient response to treatment options. Drugs that show promise in eliminating or preventing new multiple sclerosis lesions from forming are being evaluated. These new MS medications include drugs in pill form and by injection. A good animal model of multiple sclerosis has not been yet developed. Researchers think that a working animal model would help with the development of medications to treat multiple sclerosis. Stem cell therapy, which may help reboot a patient's immune system so that multiple sclerosis lesions no longer form, is being evaluated more closely.

• Can people live a normal life with MS? Yes, many people with MS can live a normal or near-normal life, especially with early diagnosis, proper treatment, and lifestyle adjustments. Advances in disease-modifying therapies help reduce relapses and slow progression, allowing individuals to maintain independence and a good quality of life.
• What are usually the first signs of MS? The first signs of MS often include numbness or tingling, vision problems such as blurred or double vision, muscle weakness, fatigue, and balance, numbness or abnormal sensations (usually affecting one side of the face or body), or coordination issues. These symptoms may appear suddenly, vary in severity, and often come and go in early stages.
• What triggers multiple sclerosis? The exact cause of multiple sclerosis is unknown, but it is believed to be triggered by a combination of genetic predisposition and environmental factors. Potential triggers include viral infections such as Epstein-Barr virus, low vitamin D levels, smoking, and certain geographic or lifestyle influences that affect the immune system.
• What not to do if you have MS? If you have MS, it’s important to avoid excessive heat, smoking, and sedentary behavior, as these can worsen your symptoms or trigger flare-ups. Skipping medications or neglecting regular medical checkups can also lead to disease progression. Managing stress and avoiding overexertion are equally important for maintaining stability.