Multiple Sclerosis Diagnosis: Understanding the Path to Clarity

Neurological Exam

A thorough neurological exam and detailed medical history are crucial steps in diagnosing multiple sclerosis (MS). This initial assessment helps healthcare professionals identify potential signs of MS and understand the patient’s symptoms.

Multiple Sclerosis Diagnosis: Frequently Asked Questions

Neurologist Oliver Tobin, M.B., B.Ch., B.A.O., Ph.D., addresses common questions surrounding multiple sclerosis diagnosis and related factors.

Weight and MS Risk: Being overweight is associated with a higher risk of developing MS and can lead to more active disease and faster progression in individuals already diagnosed with MS. A neuroprotective diet, such as the Mediterranean diet rich in fish, vegetables, and nuts, and low in red meat, is often recommended.

Heat Sensitivity: Many MS patients experience temporary symptom worsening in heat or during strenuous exercise. It’s important to understand that heat does not cause MS attacks or permanent damage. Exercise remains highly recommended for brain and spinal cord protection.

Stem Cell Treatments: Currently, stem cell treatments for MS are still under investigation. Scientists are working to determine the beneficial stem cell types, administration routes, dosages, and frequencies. Stem cell treatments are not recommended outside of clinical trials at this time.

NMOSD and MOG-associated Disorder: Neuromyelitis optica spectrum disorder (NMOSD) and MOG-associated disorder can mimic MS symptoms and are more prevalent in individuals of Asian or African-American descent. Blood tests may be recommended to rule out these conditions.

Advancements in MS Treatments: The first FDA-approved drug for MS was introduced in 1993. Since then, over 20 medications have become available, with increasing potency to effectively suppress the inflammatory aspects of MS. These advancements are largely due to patient participation in research studies, including drug trials and observational studies.

Comprehensive MS Care: Upon receiving an MS diagnosis, patients become central to their medical team. A comprehensive MS center, involving neurologists, urologists, physiatrists, psychologists, and other specialists, offers the best approach to manage MS and improve patient outcomes.

Diagnostic Process Overview: There isn’t a single definitive test for MS. Diagnosis relies on a combination of medical history, neurological examination, MRI scans, and spinal tap results. Ruling out other conditions with similar symptoms, known as differential diagnosis, is also a critical part of the process.

MRI for Multiple Sclerosis Lesions

Magnetic Resonance Imaging (MRI) is a vital tool in diagnosing MS. Brain MRI scans can reveal characteristic white matter lesions associated with multiple sclerosis, aiding in confirming the diagnosis and monitoring disease progression.

Lumbar Puncture (Spinal Tap) in MS Diagnosis

A lumbar puncture, or spinal tap, is another diagnostic test for MS. During this procedure, cerebrospinal fluid is collected from the spinal canal for laboratory analysis. This fluid can reveal specific antibodies linked to MS and help exclude other conditions with similar symptoms.

Diagnostic Tests for Multiple Sclerosis:

Several tests are employed to diagnose MS, including:

MRI (Magnetic Resonance Imaging): MRI is highly sensitive in detecting MS lesions within the brain and spinal cord. Contrast dye may be used to highlight active lesions, indicating recent disease activity.
Lumbar Puncture (Spinal Tap): This procedure involves extracting a small sample of cerebrospinal fluid for lab examination. It can detect oligoclonal bands, indicative of antibody changes associated with MS, and helps exclude other conditions. Kappa free light chain antibody tests in spinal fluid offer a faster and more cost-effective alternative to traditional tests.
Optical Coherence Tomography (OCT): OCT uses light waves to generate detailed images of the retina. It can detect optic neuritis, a common condition in MS, by measuring retinal thickness and identifying retinal nerve fiber damage.
Evoked Potential Tests: These tests measure the electrical signals produced by the nervous system in response to stimuli. Visual or electrical stimuli are used to assess the speed of nerve signal transmission. Delayed responses can indicate nerve damage consistent with MS.
Blood Tests: While no blood test definitively diagnoses MS, they are crucial for ruling out other conditions that mimic MS symptoms. Research is ongoing to develop blood-based biomarkers that could aid in MS diagnosis.
Neuropsychological Testing: This comprehensive assessment evaluates cognitive functions such as thinking, memory, language, and social skills, as well as personality and mood. A neuropsychologist conducts these tests to identify cognitive impairment, common in MS, and establish a baseline for monitoring changes over time.

In relapsing-remitting MS, diagnosis is often straightforward, based on symptom patterns and confirmed by test results. However, diagnosing MS can be more challenging in cases with atypical symptoms or progressive forms of the disease, potentially requiring more extensive testing.

Brain MRI is frequently used to support the diagnosis of multiple sclerosis by visualizing characteristic lesions.

Seeking Expert Care at Mayo Clinic

For comprehensive care and expert diagnosis of multiple sclerosis, explore the resources available at Mayo Clinic. Start Here

Further Resources

Treatment

While there is currently no cure for multiple sclerosis, treatment strategies focus on managing the disease course and symptoms. Treatment goals include speeding recovery from attacks, reducing relapse frequency, slowing disease progression, and managing MS symptoms to improve quality of life. Some individuals with very mild MS symptoms may not require immediate treatment.

Ongoing research in multiple sclerosis is crucial for developing improved diagnostic tools and more effective treatments.

Treatments for MS Attacks

During acute MS attacks, treatments aim to reduce inflammation and manage symptoms:

Corticosteroids: These medications, such as oral prednisone and intravenous methylprednisolone, are used to reduce nerve inflammation. Potential side effects include insomnia, elevated blood pressure and glucose levels, mood changes, and fluid retention.
Plasma Exchange (Plasmapheresis): This procedure may be used for severe, new symptoms unresponsive to steroids. It involves separating plasma from blood cells, mixing the cells with albumin, and returning them to the body.

Disease-Modifying Therapies (DMTs) for MS Progression

Disease-modifying therapies (DMTs) are crucial for managing relapsing-remitting MS and some forms of progressive MS. Early and aggressive treatment with DMTs can reduce relapse rates, slow lesion formation, and potentially lessen disability progression. Choosing the right DMT involves considering disease duration, symptoms, prior treatment responses, other health conditions, and family planning.

DMT options are available in injectable, oral, and infusion forms.

Injectable DMTs:

Interferon beta medications: These modulate the immune system, reducing inflammation and promoting nerve growth. They can decrease relapse frequency and severity. Side effects may include flu-like symptoms, injection site reactions, and potential liver enzyme changes requiring monitoring.
Glatiramer acetate (Copaxone, Glatopa): This medication may block immune attacks on myelin. Injection site irritation and swelling are potential side effects.
Ofatumumab (Kesimpta, Arzerra): Targeting B cells that damage the nervous system, ofatumumab reduces the risk of new lesions and symptom worsening. Possible side effects include infections and injection site reactions.

Oral DMTs:

Teriflunomide (Aubagio): A once-daily oral medication reducing relapses. Liver damage, hair loss, and birth defects are potential risks, requiring contraception and regular blood tests.
Dimethyl fumarate (Tecfidera): A twice-daily oral option that can reduce relapses. Flushing, gastrointestinal issues, and lowered white blood cell counts are possible side effects requiring monitoring.
Diroximel fumarate (Vumerity): Similar to dimethyl fumarate but with potentially fewer side effects.
Monomethyl fumarate (Bafiertam): A delayed-release formulation aiming to minimize side effects, with possible risks including flushing and liver damage.
Fingolimod (Gilenya): A once-daily oral medication reducing relapse rates. First-dose heart monitoring is required due to potential heart rate slowing. Birth control is necessary due to fetal harm risks.
Siponimod (Mayzent): A once-daily oral medication for relapsing-remitting and secondary-progressive MS, reducing relapses and slowing progression. Potential side effects include viral infections and liver damage.
Ozanimod (Zeposia): A once-daily oral medication decreasing relapse rates. Elevated blood pressure and liver inflammation are possible side effects.
Ponesimod (Ponvory): A once-daily oral medication with a gradual dose escalation. Respiratory infections and blood pressure changes are potential side effects.
Cladribine (Mavenclad): Generally a second-line treatment for relapsing-remitting and secondary-progressive MS, administered in two yearly courses. Side effects include infections and reduced white blood cell counts.

Infusion DMTs:

Natalizumab (Tysabri): A monoclonal antibody reducing relapse rates and disability progression. It carries a risk of progressive multifocal leukoencephalopathy (PML), a serious brain infection.
Ocrelizumab (Ocrevus): Approved for relapsing-remitting and primary-progressive MS, reducing relapse rates and slowing disability progression. Infusion reactions and increased infection risk are possible side effects.
Ublituximab (Briumvi): A monoclonal antibody for relapsing MS forms, with side effects including infusion reactions and increased infection risk.
Alemtuzumab (Campath, Lemtrada): A monoclonal antibody reducing relapse rates and MRI lesion activity. It carries risks of infusion reactions, infections, and autoimmune conditions.

Symptom Management in MS

Managing MS symptoms is crucial for improving quality of life.

Therapy: Physical and occupational therapy are essential for stretching, strengthening, and adapting to daily tasks. Mobility aids can assist with leg weakness and walking difficulties.
Muscle Relaxants: Medications like baclofen, tizanidine, and cyclobenzaprine can help manage muscle stiffness and spasms. Botox is another option for muscle contractions.
Fatigue Management: While medications like amantadine and modafinil have been used, recent studies question their effectiveness over placebo. Antidepressants like fluoxetine and bupropion may be considered.
Walking Speed Improvement: Dalfampridine may slightly increase walking speed in some individuals.
Other Medications: Medications can address depression, pain, sexual dysfunction, insomnia, and bladder/bowel control issues associated with MS.

Recent Advances and Emerging Therapies

Bruton’s Tyrosine Kinase (BTK) Inhibitors: These are being investigated for relapsing-remitting and secondary-progressive MS, targeting B cell function in the central nervous system.
Stem Cell Transplantation: Research continues on stem cell transplantation to reset the immune system in MS.
CD40L Blocking: Blocking CD40L protein in T cells shows promise in MS management.
Phosphodiesterase Inhibitors: New medications are being studied to reduce inflammation by modifying immune responses in MS.
Understanding Existing DMTs: Research continues to refine our understanding of how current DMTs work to improve their effectiveness.

Further Information

Request an Appointment

Clinical Trials

Explore Mayo Clinic clinical trials for new MS treatments and diagnostic approaches.

Lifestyle and Home Remedies

Lifestyle adjustments can help manage MS symptoms:

Adequate Rest: Prioritize good sleep habits and address sleep disorders like sleep apnea.
Regular Exercise: Mild to moderate exercise improves strength, balance, and coordination. Water exercises, walking, stretching, yoga, and tai chi are beneficial.
Cooling Strategies: Staying cool and using cooling garments can help manage heat-sensitive symptoms.
Balanced Diet: The Mediterranean diet, rich in fruits, vegetables, and healthy fats, may be beneficial. Vitamin D intake may also be important.
Stress Reduction: Stress management techniques like yoga, meditation, and massage can be helpful.

Alternative Medicine

Complementary therapies can support overall well-being in MS:

Exercise, meditation, yoga, massage, acupuncture, and relaxation techniques may be beneficial.
Oral cannabis extract (OCE) may improve muscle contractions and pain, according to guidelines.
Vitamin D3 supplementation (2,000-5,000 IU daily) is often recommended.

Coping and Support

Coping with a chronic illness like MS requires time and support.

Education and Informed Decisions

Learn about MS to make informed decisions about your care and treatment.

Strong Social Connections

Maintain close relationships with friends and family for practical and emotional support.

Seek Support Systems

Connect with counselors, social workers, clergy, or MS support groups for emotional support and understanding.

Preparing for Your Appointment

Preparation is key for effective medical appointments.

What You Can Do

Pre-Appointment Instructions: Ask about dietary or other restrictions before your appointment.
Symptom Documentation: Write down all symptoms, even seemingly unrelated ones.
Personal Information: Note major stresses or life changes.
Medication List: Prepare a list of all medications, vitamins, and supplements.
Bring a Companion: A friend or family member can help remember information.
Question List: Prepare questions to ask your healthcare team, prioritizing the most important ones.

Sample Questions to Ask:

What is the likely cause of my symptoms?
What tests are needed, and is there any special preparation?
Is my condition temporary or ongoing?
What treatments are available?
How can my other health conditions be managed alongside MS?

What to Expect From Your Doctor

Be ready to answer questions about:

Symptom onset and duration
Symptom severity
Factors that improve or worsen symptoms
Family history of MS

By Mayo Clinic Staff

Multiple sclerosis care at Mayo Clinic