Into the Depths of Multiple Sclerosis: An Exploration from Symptoms to Treatment Options

The Rare360 Editorial Team

Jan 11, 202413 min read

Updated: Jan 16, 2024

An illustration comparing a normal nerve on one side to damaged nerves on the other, depicting the effects of Multiple Sclerosis (MS) autoimmune disease. The damaged nerves show exposed fibers, scarred cell sheath loss, and signs of the MS condition.

Many rare diseases have symptoms that can overlap with those of more common conditions like Multiple Sclerosis (MS). Due to this overlap, when individuals present with certain symptoms that are not immediately attributable to a well-known condition, medical professionals might consider the possibility of MS as a preliminary hypothesis. As you read this blog post further, it will help you understand the characteristics of MS, its typical symptoms, and the diagnostic process which can help you become an informed advocate for your own health.

Understanding Multiple Sclerosis and Its Type

Multiple Sclerosis stands as a complex autoimmune disorder impacting the central nervous system (CNS) - comprising the brain, spinal cord, and optic nerves. In this condition, the immune system mistakenly attacks the protective myelin sheath enveloping nerve fibers. The autoimmune attack triggers inflammation and the formation of lesions, leading to the creation of scar tissue known as sclerosis. This damage disrupts the flow of information within the brain, and between the brain and body, leading to a range of symptoms. It’s an unpredictable lifelong condition that can sometimes cause serious disability, although it can occasionally be mild.

Despite extensive research, the precise origin of MS remains elusive. However, it is believed to be caused by a combination of several factors, including, immune system malfunction, genetic predisposition, environmental influences, and potential involvement of viral or bacterial infections.

Types of Multiple Sclerosis

There are four types of Multiple Sclerosis (MS):

Clinically Isolated Syndrome (CIS): Signifying the onset of neurologic symptoms due to inflammation and demyelination in the central nervous system. This episode must last 24 hours or more, and not be accompanied by fever or infection, to be considered a first presentation of the disease. Importantly, not everyone experiencing CIS progresses to develop full-fledged MS.
Relapsing-Remitting MS (RRMS): This is the most common form of MS, and is estimated to account for about 85% of all newly diagnosed cases. It is characterized by periods where symptoms increase (relapses) followed by periods of partial or complete recovery (remission).
Primary Progressive MS (PPMS): PPMS is a progressive form of the disease that is diagnosed in about 15% of MS patients. In this type, neurological function becomes progressively worse from the onset of symptoms, without early relapses or remissions.
Secondary Progressive MS (SPMS): This type occurs in some people who initially have RRMS and involves a progressive worsening of neurologic function over time. Without treatment, 50% of people with RRMS go on to develop SPMS within a decade, and 90% of RRMS cases progress to SPMS within 25 years.

Each type of MS can vary substantially from person to person, and the course of the disease can be unpredictable. It’s important to note that while the current classification is widely employed, a proposed re-evaluation by an international committee - jointly organized by the National MS Society and the European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) - is under consideration, signifying the dynamic nature of MS research and classification.

Multiple Sclerosis Prevalence and Risk Factors

Multiple Sclerosis affects millions of people worldwide. The total number of adults with MS in the United States is estimated to be roughly 1 million. An estimated 200 new cases are diagnosed each week in the United States, according to the MS Discovery Forum. Globally, the number of people with MS has increased from 2.3 million in 2013 to 2.8 million in 2020 and 2.9 million in 2023.

Risk Factors Associated with Multiple Sclerosis

There are several factors associated with an increased chance of developing MS. Some of them are:

Age: Individuals between ages 20 and 40 years are at higher risk of developing MS.
Gender: Women make up the majority of MS cases in the world and as a result, are currently twice as likely to have MS than men. Geographical variations manifest, with some regions reporting a four-to-one ratio of MS cases in women compared to men.
Genetics: Family history emerges as a significant risk factor, with a parent or sibling having MS may increase an individual’s vulnerability. A specific gene on chromosome 6p21 has been associated with MS.
Racial Classification: Some research studies suggest that Black people have the highest risk of developing MS, followed by White people. People of Hispanic descent appear to be at lower risk than White people, and they tend to be diagnosed at a younger age. People of Asian descent appear to have the lowest risk of developing MS.
Ethnicity: Different ethnic groups may present distinct initial MS symptoms, making it harder for doctors to diagnose the condition. In the early stages, Black and Hispanic people are more likely to have symptoms involving damage to the optic nerve and spinal cord, such as vision problems, eye pain, and pain radiating through the body. White people are more likely to have sensory problems such as tingling and numbness in the legs or arms.
Obesity: An association with obesity and MS has been found in females. This is especially true for female childhood and adolescent obesity.
Environmental Factors: Some research studies suggest that certain environmental factors, such as low levels of Vitamin D and smoking, may increase the risk of developing MS. Regions with temperate climates, such as Canada, the northern United States, New Zealand, southeastern Australia, and Europe, exhibit higher MS prevalence. Birth month also appears to influence susceptibility, with prenatal sun exposure correlating with decreased MS risk in offspring.
Infections: Some researchers are investigating whether viruses or other infectious agents may trigger the onset of MS.
Certain autoimmune diseases: Individuals with other autoimmune disorders, such as thyroid disease, pernicious anemia, psoriasis, type 1 diabetes, lupus, or inflammatory bowel disease, face a slightly higher risk of developing MS.

Signs and Symptoms of Multiple Sclerosis

Multiple Sclerosis can cause a wide range of symptoms, which may differ greatly from person to person and over the course of the disease depending on the location of affected nerve fibres. Some of the most common symptoms include:

Visual changes: MS can lead to double vision or loss of vision. In some cases, pain during eye movement may accompany partial or complete loss of vision in one eye at a time.
Numbness or weakness: This typically occurs on one side of your body at a time and can range from mild to severe.
Tingling: Described as a "pins and needles" sensation, tingling is a common sensory symptom in MS.
Tremor: Some people with MS may experience uncontrollable shaking, which can occur in various parts of the body.
Paralysis: In severe cases, MS may cause paralysis, particularly in the legs.
Vertigo or dizziness: Some people with MS may experience a feeling of spinning or loss of balance.
Muscle spasticity: This refers to feelings of stiffness and a wide range of involuntary muscle spasms.
Incoordination of muscles: This can manifest as problems with balance, coordination, or walking.
Slurred speech: Some people with MS may have difficulty speaking in a clear, coordinated way.
Fatigue: This is one of the most common symptoms of MS, and it can significantly interfere with a person’s ability to function at home and work.
Cognitive problems: These can include problems with memory, attention, and problem-solving abilities.
Mood disturbances: These can include depression and anxiety.
Sexual problems: These can include problems with sexual response or performance.
Bladder problems: These can include frequent urination, strong urges to urinate, or inability to hold in urine.
Bowel problems: These can include constipation, diarrhea, or loss of bowel control.

Diagnosing Multiple Sclerosis

Multiple Sclerosis is diagnosed through a combination of clinical history, physical examination, and various medical tests. MS is mostly diagnosed by a neurologist. They will use a specific checklist to diagnose MS, known as the McDonald criteria. The diagnostic process may involve the following steps:

Clinical History and Examination: Your healthcare provider will start with a thorough medical history and neurological examination. They may check for mental functions, emotional functions, speech, movement and coordination, balance, changes or weaknesses in your eye movements, balance or reflexes.
Blood Tests: Although there is no definitive blood test for MS, these are done to rule out other diseases with symptoms similar to MS, including Sjogren's syndrome, lupus erythematosus, mineral and vitamin deficiencies, some infections and rare hereditary diseases.
Spinal Tap (Lumbar Puncture): A small sample of cerebrospinal fluid (CSF) is removed from your spinal canal for laboratory analysis. This sample can show abnormalities in antibodies that are associated with MS. A spinal tap can also help rule out infections and other conditions with symptoms like MS.
Magnetic Resonance Imaging (MRI): MRI of the brain and spinal cord is performed to check on the MS lesions. You may receive an intravenous injection of a contrast material to highlight lesions that indicate your disease is in an active phase.
Nerve Conduction Test: This test assesses nerve conductivity, providing valuable insights into the functioning of the nervous system.
Evoked Potential Tests: These record the electrical signals produced by your nervous system in response to stimuli. An evoked potential test may use visual stimuli or electrical stimuli.

In most people with relapsing-remitting MS, the diagnosis is straightforward and based on a pattern of symptoms consistent with the disease and confirmed by brain imaging scans, such as an MRI. Diagnosing MS can be more difficult in people with unusual symptoms or progressive disease. In these cases, further testing with spinal fluid analysis, evoked potentials, and additional imaging may be needed.

Comprehensive Approaches to Managing Multiple Sclerosis

Multiple Sclerosis (MS) is a chronic condition with no known cure, but there are several treatment options available to manage the symptoms and slow the progression of the disease:

Medications Indicated for MS: Disease-Modifying Drugs (DMDs)

Disease-modifying therapies (DMTs) are the main group of medications used to treat MS. DMTs can reduce the frequency and severity of MS episodes, or relapses. They can also reduce the number and size of lesions (damage to nerve fibres) and reduce symptoms. DMTs are most effective when started early in the course of the disease.

To date, the Food and Drug Administration (FDA) has approved more than a dozen DMTs for different types of MS. Below is the list of FDA-approved DMTs to treat MS:

Injectables
- Interferon Beta: Interferon beta injectable drugs were the first DMTs approved for MS treatment. The injections help change the course of active relapsing-remitting MS and secondary progressive MS. If a person has relapsed or presents with new lesions caused by damage to the nerves, they are a good candidate for interferon beta injectable drugs. Interferon beta injectable drugs can include:
  - Interferon beta 1a injections like Avonex and Rebif, are used to treat relapsing forms of multiple sclerosis, including relapsing-remitting disease, clinically isolated syndrome, and active secondary progressive disease, in adults. These are usually injected into the muscle once per week (Anovex) or thrice per week (Rebif).
  - Interferon beta-1b injections like Betaseron and Extavia, are used to treat patients with relapsing forms of MS to decrease the frequency of acute flare-ups. These are administered under the skin.
  - Peginterferon beta-1a (Plegridy) was approved by the FDA in 2014 and is used to treat relapsing forms of MS. It is the newest formulation of interferon beta-1a which is designed to have a longer half-life, requiring less frequent dosage. It is administered under the skin once every two weeks.
- Glatiramer Acetate (Copaxone, Glatopa): Glatiramer acetate is a synthetically made substance that is meant to resemble a specific protein in myelin. The medication works by tricking the immune cells into attacking it instead of the body's myelin. It is used for reducing the frequency of acute flare-ups in patients with Relapsing-Remitting Multiple Sclerosis (RRMS)or CIS. The patient can inject this medication themselves either once every day or once three days per week under the skin.
- Ofatumumab (Kesimpta): Ofatumumab is the newest treatment for CIS, relapsing-remitting MS, and secondary progressive MS. The medication works by singling out certain harmful immune cells (B lymphocytes), resulting in less damage as there are fewer B cells targeting the myelin in the brain and spinal cord. This injectable medication is administered under the skin once per week for three weeks, followed by a one-week break, and then once a month after that.
Infusions
- Alemtuzumab (Lemtrada): Alemtuzumab is typically used as a second-line therapy to treat MS, and is used for individuals who haven’t responded well to two or more types of DMDs. The medication works by reducing the number of immune cells in the body, which can help reduce inflammation and decrease damage to the nerve cells. Alemtuzumab is given as an infusion and takes about four hours.
- Mitoxantrone Hydrochloride: Mitoxantrone hydrochloride was originally approved as a chemotherapy treatment, but it is also used to treat relapsing-remitting and secondary progressive MS. The medication works by suppressing the action of the immune system cells that attack and damage myelin. The medication is administered through an IV infusion once every three months by a healthcare provider. The infusion takes anywhere between five to 15 minutes.
- Ocrelizumab (Ocrevus): Ocrelizumab is used to treat CIS, relapsing-remitting MS, and primary progressive MS. It works similarly to ofatumumab, as it reduces the number of B lymphocytes in the body, thereby decreasing the number of cells that are available to damage the myelin. The medication is administered through infusion, and there will be two separate infusion sessions with a two-week interval between them. Subsequently, regular infusions will occur every six months. The duration of each infusion session is expected to range between three to four hours.
Oral Medication
- Dimethyl fumarate (Tecfidera): This drug can help modulate the immune system to help lessen the damage to the brain and spinal cord nerves. It needs to be consumed twice every day.
- Cladribine (Mavenclad): This compound drug suppresses the action of the immune system by reducing the number of B and T lymphocytes in the body, which prevents further damage to nerve cells.
- Diroximel fumarate (Vumerity): This drug is taken twice per day. After it is broken down in the body, it converts into monomethyl fumarate and has the same immune-modulating action as dimethyl fumarate.
- Fingolimod (Gilenya): This drug works by preventing white blood cells from getting into the central nervous system by trapping them in the bean-shaped structures involved in immune function (lymph nodes).
- Monomethyl fumarate (Bafiertam): Taken twice per day, this oral medication works similarly to dimethyl fumarate and diroximel fumarate by modulating the immune response and reducing inflammation.
- Ozanimod (Zeposia): This drug traps white blood cells in the lymph nodes, which keeps them from passing into the central nervous system where they can cause further damage.
- Siponimod (Mayzent): Similar to ozanimod, siponimod retains white blood cells in the lymph nodes to ensure they do not get into the central nervous system. It also reduces inflammation.

Medications for MS Symptom Management

Some MS medications are designed to treat or manage MS based on specific symptoms or other conditions that arise.

Bladder Symptoms Bladder symptoms affect up to 80% of people with MS. Medications that treat or manage bladder dysfunction tend to work by relaxing bladder muscles to prevent the over-contraction of the muscles. They can also reduce muscle spasms, block connections between the nerves and muscles in the bladder, and help to encourage the flow of urine.
- Darifenacin (Enablex)
- Desmopressin (DDVAP nasal spray)
- Imipramine (Tofranil), Mirabegron (Myrbetriq)
- Onabotulinumtoxin A (Botox)
- Oxybutynin (Ditropan, Ditropan XL, Oxytrol)
- Prazosin (Minipress)
- Solifenacin (VESIcare)
- Tamsulosin (Flomax)
- Tolterodine (Detrol)
Emotional Changes Roughly 10% of people with MS will experience uncontrollable bouts of laughter or crying that are not related to any true emotion (pseudobulbar affect). An even smaller number of people with MS experience an unrealistically happy and out-of-touch-with-reality feeling (euphoria).
Bowel Dysfunction Roughly 39% to 73% of people with MS experience bowel dysfunction. One of the most common bowel symptoms that people with MS experience is constipation. There are different types of medications that can be used to treat constipation, including:
- Laxatives (Bisacodyl (Dulcolax), Fleet enema, Magnesium hydroxide)
- Stool softeners Docusate (Colace), Glycerin suppositories, Mineral oil), and
- Bulking agents (psyllium fiber (Metamucil).
Fatigue Over 80% of people with MS experience fatigue. Medications designed to treat fatigue include:
- Dextroamphetamine and amphetamine (Adderall)
- Modafinil (Provigil)
Pain and Dysesthesia Up to 75% of people with MS experience some form of chronic pain or abnormal sensations (dysesthesia). To help treat these feelings, medications include:
- Amitriptyline
- Clonazepam (Klonopin)
- Gabapentin (Neurontin)
- Nortriptyline (Pamelor)
- Phenytoin (Dilantin)
Itching Itching is a symptom that many people with MS experience. They also can have abnormal sensations such as pins and needles or burning, stabbing, or tearing pains. The medication that is most often used to treat itching in people with MS is hydroxyzine (Vistaril), an antihistamine that is typically used to prevent allergy symptoms.
Depression Nearly 50% of people with MS develop depression. The most common antidepressant medications given to people with MS are selective serotonin reuptake inhibitors (SSRIs). Some examples of SSRIs that are used to treat depression in people with MS include:
- Citalopram (Celexa)
- Paroxetine (Paxil)
- Fluoxetine (Prozac)
- Sertraline (Zoloft)
Sexual Dysfunction Sexual dysfunction can affect anyone with MS and can include erectile dysfunction, the inability to achieve orgasm, and low libido. Some of the medications that are used to treat these symptoms include:
- Sildenafil (Viagra)
- Tadalafil (Cialis)
- Vardenafil (Levitra)
- Alprostadil (MUSE, Prostin VR, Caverject)
- Avanafil (Stendra)
Tremors Although tremors do not occur in everyone with MS, as many as 58% of people with the disease will experience the symptoms at some point. Some medications that can be used to treat tremors in people with MS include:
- Baclofen
- Clonazepam (Klonopin)
- Dantrolene (Dantrium)
- Diazepam (Valium)
- Onabotulinumtoxin A (Botox)
- Tizanidine (Zanaflex)
Spasticity and Muscle Stiffness The same medications that are used to treat tremors in MS can also be used to manage muscle stiffness and spasticity, including:
- Baclofen (Lioresal, Fleqsuvy)
- Cyclobenzaprine (Amrix)
- Dantrolene (Dantrium)
- Diazepam (Valium)
- Onabotulinumtoxin A (Botox)
- Tizanidine (Zanaflex)
Vertigo and Dizziness According to the National Multiple Sclerosis Society, vertigo and dizziness are common symptoms of MS. It can lead to people feeling off-balance or lightheaded, and may even increase the risk of people falling. To treat vertigo and dizziness in people with MS, the medication meclizine (Antivert) is used. It is used to address dizziness, nausea, and vertigo in a variety of conditions.
Difficulty Walking and Gait Changes Because of the way MS affects the central nervous system, many people with the condition can develop trouble walking and with mobility. When someone's ability to move around is affected by MS, their treatment plan will need to be adjusted to address it. The medication that is typically used to help with walking or gait changes in people with MS is dalfampridine (Ampyra), an oral medication that works by improving signals in the nerves that have become damaged because of MS.

Therapies

Various therapies can help manage symptoms and improve quality of life:

Plasmapheresis: A procedure where the blood from the patient is removed, plasma separated and new plasma is injected back to remove the antibodies that attack the nerves.
Physical Therapy: It can help maintain body movement and facilitate engagement through physical activities.
Occupational Therapy: This can help prevent disability associated with the disease.
Speech Therapy: It can improve speaking capabilities.
Immunotherapy: These target the immune cells or their functions thought to be important in sustaining the disease.
Stem Cell Therapy: Researchers and medical practitioners are exploring stem cell therapy as a means to replenish and repair compromised neural tissue. The idea is to introduce stem cells into the affected areas, promoting the regeneration of myelin and potentially halting or reversing the progression of the disease.

Living with Multiple Sclerosis (MS) often entails navigating a spectrum of symptoms and challenges. Incorporating strategic lifestyle modifications can play a pivotal role in not only managing symptoms but also enhancing overall well-being. Regular exercise, a healthy diet, and adequate rest can help manage symptoms and improve quality of life. Please note that the treatment plan is individualized for each person, based on the type of MS, the severity of symptoms, and the person’s overall health.

Conclusion

In the exploration of Multiple Sclerosis (MS), it becomes evident that this autoimmune disorder presents a multifaceted challenge, impacting the lives of millions of people worldwide. The journey from recognizing initial symptoms to a comprehensive diagnosis involves a spectrum of medical assessments, including clinical history, physical examinations, and specialized tests.

The pursuit of innovative treatments, such as stem cell therapy, offers promising avenues for potential regeneration and repair of compromised neural tissues. However, the comprehensive landscape of MS management involves a spectrum of treatment options, including disease-modifying drugs, symptom-specific medications, and various therapies aimed at improving overall well-being.

It's crucial to emphasize that the information provided here is a guide, and each individual's journey with MS is unique. Consultation with healthcare professionals, including neurologists and MS specialists, is integral to formulating an individualized treatment plan. By staying informed, advocating for one's health, and embracing the available resources, individuals impacted by MS can strive for a better quality of life.

As we continue to unravel the complexities of Multiple Sclerosis, let us foster a supportive community that empowers those affected by the condition. Together, we can contribute to ongoing research, share experiences, and ultimately enhance the understanding and management of MS on a global scale.