Multiple sclerosis symptoms, diagnosis & treatment

What is multiple sclerosis?

Multiple sclerosis (MS) is a chronic disease affecting the brain and spinal cord (central nervous system). An autoimmune disease, MS causes the body’s immune system to attack the protective covering around the nerves in the brain and spinal cord. This attack causes inflammation, which disrupts electrical messages between the brain and body. MS can cause permanent damage and nerve deterioration.

The cause of MS is unknown. It is not contagious, nor is it directly inherited. While there is no cure, treatment can help with symptoms and slow its progression. The approximately 200,000 MS cases per year in the United States cause a wide variety of symptoms including pain, fatigue and lack of physical coordination. MS affects every patient differently. Symptoms depend on which nerves are affected and how badly they’re damaged. Some people have such mild symptoms that no treatment is needed. Other MS patients are symptom free most of their lives. Yet other patients have long-term symptoms so severe that they lose the ability to write, speak or walk.

In very rare cases, MS can progress so rapidly that it is fatal. The average life expectancy of MS patients is shortened by about seven years, compared to the general population. Complications of MS plus other medical conditions can shorten lifespan. However, most of these complications are manageable with physical therapy and medication.

Are there different types of multiple sclerosis?

MS is described by how the disease progresses. Four basic types of progression are used to define the disease and plan treatment. The basic types are:

Clinically isolated syndrome (CIS) is the first time the person has neurological symptoms caused by inflammation and destruction of the myelin sheath surrounding nerves of the central nervous system. The CIS episode lasts for at least 24 hours. While the symptoms are like MS, the patient does not meet the criteria needed to diagnose MS. If MS-like lesions are found on the brain, the patient has a high chance of having a second CIS episode and an eventual MS diagnosis.
Relapsing-remitting MS (RRMS) progresses with periods of new symptoms or a new worsening of older symptoms (called relapses). Relapses can develop over days or weeks. They eventually improve – either partially or completely. Between relapses, the patient has a full or partial recovery period (remission) when all symptoms can disappear. Remission can last months or even years. However, a remission can also bring symptoms that become permanent. RRMS does not progress between relapses. RRMS is the most common type of progression. About 85% of patients are diagnosed with RRMS disease progression.
Secondary progressive MS (SPMS) follows RRMS in more than half of all cases within 10 to 20 years. SPMS causes a steady progression of symptoms over time and a worsening of disability. Patients may or may not have new attacks, new lesions, or periods of remission. The rate of disease progression varies greatly among SPMS patients.
Primary progressive MS (PPMS) describes a steady worsening of symptoms and eventual disability, although there are very few relapses and remissions. This progression affects 15% of MS patients.

Another condition, called radiologically isolated syndrome (RIS), is useful to identify patients who have MS-like lesions on the brain and/or spinal cord but do not have neurological symptoms. More than half of people with RIS develop MS within 10 years. These patients should be monitored with MRIs and neurological exams to quickly identify changes so early treatment can begin.

What causes multiple sclerosis?

MS occurs when something causes the immune system to malfunction and attack the myelin that insulates and protects the nerves of the central nervous system. It is not known what causes the immune system to suddenly malfunction. When the protective myelin is damaged it exposes the nerve, which slows or blocks messages traveling along the nerves to the brain. Researchers believe that a combination of genetics and environmental factors are responsible for the immune system attack.

Who’s at risk for multiple sclerosis?

Environmental and genetic factors that contribute to a greater risk of developing MS include:

Geography – MS is more common in areas that are further from the equator.
Low vitamin D level is a risk factor for MS. People living closer to the equator get more sun exposure, providing a natural source of vitamin D. This provides a lower risk of developing MS. Vitamin D helps support the immune system and could protect against immune-compromised diseases like MS.
Smoking tobacco increases the risk of developing MS, may cause more severe disease, and faster disease progression. Stopping smoking is linked to a slower progression of disability.
Obesity in childhood, adolescence, or early adulthood (especially among girls) increases the risk of developing MS.
Having an autoimmune disease, including thyroid disease, pernicious anemia, psoriasis, type 1 diabetes, or inflammatory bowel disease, increases risk.
Between the ages of 20 and 50; although MS can develop in young children and older people
Female – RRMS is three times more common in women compared to men; hormones may play a role in making women more susceptible
Caucasian or northern European ancestry
Genetic risk for MS may be inherited. MS is not an inherited disease. However, studies of identical twins show that if one twin has MS, the other twin has a one in four chance of also developing MS. Risk increases if your parents, siblings or children have MS.

What are the symptoms of multiple sclerosis?

MS patients can have widely divergent symptoms that can be unpredictable. They can change over the course of the disease, depending on which nerves are affected. Some people may be symptom free most of their lives, while others can have severe symptoms that never go away. Symptoms can be temporary or chronic, and typically include:

Numbness or tingling on one side of the body
Pain
Fatigue
Weakness
Muscle stiffness or spasms
Unsteady walking
Tremors
Loss of coordination and balance; dizziness
Paralysis, usually affects the legs
Problems with sexual, bowel or bladder function
Mood changes, depression
Memory and concentration problems
Blurred vision, double vision, or blindness
Pain with eye movement
Slurred speech
Epilepsy

Most MS patients don’t become disabled and maintain the ability to walk. Some patients need a cane, walker or wheelchair to help with balance problems, weakness, or fatigue.

How is multiple sclerosis diagnosed?

MS can be difficult to diagnose. In early MS, symptoms are often too non-specific and may be ignored If they come and go. Diagnosis can be more difficult if patients have unusual symptoms or their disease is worsening. A diagnosis usually depends on whether other conditions with similar symptoms can be ruled out and if the patient has a pattern of symptoms that confirm MS. There are no specific tests that can diagnose MS. Your doctor will start with your medical history, a physical exam, and may recommend:

Blood tests to rule out other diseases
Spinal tap to obtain a sample of spinal fluid that is analyzed for changes in antibodies that are linked to MS; it can also rule out infections and other diseases
MRI imaging can reveal lesions on the brain and spinal cord
Evoked potential tests measure the electrical signals produced by your nervous system

Patients with clinically isolated syndrome (CIS), who are at high risk for developing MS, can now be treated with an FDA-approved disease-modifying therapy that delays onset of MS.

What are the treatment options for multiple sclerosis?

Although there is no cure for MS, treatment can speed your recovery from relapses, manage symptoms, and slow the disease’s progression. Treatment is based on the duration and severity of your disease, if previous MS treatment was effective, and your overall health.

Early and aggressive treatment is very important because MS can damage the nervous system before you have symptoms. MS medications can reduce inflammation, nerve damage, loss of brain tissue, and long-term disability. Early treatment can also lower the relapse rate, slow the formation of new lesions, and potentially reduce risk of disability and brain atrophy.

To treat MS relapses these medications can be used:

Corticosteroids reduce nerve inflammation. Side effects include insomnia, increased blood pressure, increased glucose levels, mood swings, and fluid retention.
Plasmapheresis (plasma exchange) removes the liquid part of your blood from the blood cells. Blood cells are mixed with a protein solution and put back into your body. This treatment is used if the symptoms are new, or are severe and haven’t been helped with corticosteroids.

To slow or stop PPMS disease progression, ocrelizumab (Ocrevus) is the only medication with U.S. Food and Drug Administration (FDA) approval. It can slightly reduce the progression of MS.

To treat MS, several therapies are available in injectable, oral, or infusion form, including:

Interferon beta medications are the most commonly prescribed and can reduce the frequency and severity of relapses. It is injected under the skin or into a muscle. Side effects can include flu-like symptoms and injection-site reactions. Blood tests are needed to monitor your liver for damage. Interferons can develop neutralizing antibodies that reduce drug effectiveness.
Glatiramer acetate (Copaxone, Glatopa) is injected under the skin, and helps block the immune system from attacking the myelin sheath. Can cause skin irritation at the injection site.
Fingolimod (Gilenya) is an oral medication that reduces the relapse rate. Side effects include a slowed heartbeat, infection, headaches, high blood pressure and blurry vision.
Dimethyl fumarate (Tecfidera) is taken orally to reduce relapses. Side effects may include flushing, diarrhea, nausea, and lowered white blood cell count that requires regular blood monitoring.
Diroximel fumarate (Vumerity) is taken orally to treat relapsing MS; causes fewer side effects.
Teriflunomide (Aubagio) is taken orally to reduce relapse rate. It can cause liver damage, hair loss, and birth defects. It requires regular blood monitoring.
Siponimod (Mayzent) is an oral medication that reduces relapse rate and slows progression of MPMS. Side effects may include viral infections, liver problems, low white blood cell count, changes in heart rate, headaches, vision problems, and can harm a fetus. Regular blood monitoring is required.
Cladribine (Mavenclad) is an oral medication for RRMS and SPMS. Side effects may include respiratory infections, headaches, tumors, serious infections, and low white blood cell level that requires regular blood monitoring.
Ocrelizumab (Ocrevus) is an intravenous infusion that treats RRMS and PPMS by reducing the relapse rate and slowing disability progression. Side effects may include irritation at the injection site, low blood pressure, fever, nausea, and an increased risk of infections and breast cancer.
Natalizumab (Tysabri) is an infusion that blocks immune cells from entering the blood that goes to your brain and spinal cord. It’s a first-line treatment for patients with severe MS, or a second-line treatment for others. It increases the risk of a potentially serious viral infection of the brain.
Alemtuzumab (Campath, Lemtrada) is an infusion that reduces MS relapses, and can limit nerve damage. It’s usually recommended for patients with aggressive MS or as second-line treatment for patients who aren’t helped by other medications. It can increase the risk of infections and autoimmune disorders.

Treatments to help manage symptoms include:

Physical therapy (PT) can strengthen and stretch muscles and ease other symptoms. Therapists also teach how to use assistive devices and mobility aids to help manage leg weakness and gait problems.
Muscle relaxants are needed for painful or uncontrollable muscle stiffness or spasms (baclofen, tizanidine, and cyclobenzaprine).
Fatigue can be reduced with amantadine, modafinil, and methylphenidate; selective serotonin reuptake inhibitors may be added.
Increase walking speed - dalfampridine slightly increases walking speed.
Other symptoms may be treated with medications for depression, pain, insomnia, bladder and bowel control, or sexual dysfunction.

Mayo Clinic. (2021, Nov). Multiple Sclerosis. Retrieved 12-28-21, {https://www.mayoclinic.org/diseases-conditions/multiple-sclerosis/symptoms-causes/syc-20350269}

Mayo Clinic. (2021, Nov). Multiple Sclerosis, Diagnosis and Treatment. Retrieved 12-28-21, {https://www.mayoclinic.org/diseases-conditions/multiple-sclerosis/diagnosis-treatment/drc-20350274}

National Multiple Sclerosis Society. (N.d.) What is MS? Retrieved 12-28-21, {https://www.nationalmssociety.org/What-is-MS}

Johns Hopkins Medicine. (N.d.) Multiple Sclerosis (MS). Retrieved 12-28-21, {https://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/multiple_sclerosis/conditions/}

Medically reviewed by:

Dr. Desiree Levyim

Dr. Desiree Levyim is a board eligible neurologist in practice since 2020. She joins TeleMed2U in our mission to provide increased access to healthcare.

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References

Mayo Clinic. (2021, Nov). Multiple Sclerosis. Retrieved 12-28-21, {https://www.mayoclinic.org/diseases-conditions/multiple-sclerosis/symptoms-causes/syc-20350269}

Mayo Clinic. (2021, Nov). Multiple Sclerosis, Diagnosis and Treatment. Retrieved 12-28-21, {https://www.mayoclinic.org/diseases-conditions/multiple-sclerosis/diagnosis-treatment/drc-20350274}

National Multiple Sclerosis Society. (N.d.) What is MS? Retrieved 12-28-21, {https://www.nationalmssociety.org/What-is-MS}

Johns Hopkins Medicine. (N.d.) Multiple Sclerosis (MS). Retrieved 12-28-21, {https://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/multiple_sclerosis/conditions/}

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