Nearly 1 million adults in the U.S. are living with multiple sclerosis, and yet it remains a misunderstood and often misdiagnosed condition.
In summer 2021, actress Christina Applegate went public with her multiple sclerosis (MS) diagnosis and a few years earlier fellow celebrity Selma Blair spoke about her MS struggles, raising awareness of this progressive neurological disease that affects the central nervous system – specifically the brain and spinal cord.
Multiple sclerosis is considered an autoimmune condition, in which the body’s immune system attacks the protective myelin sheaths that cover a neuron’s nerve fibers, called axons. Normally, the axons transmit nervous system signals throughout the body at speeds up to 300 feet per second. But without the insulating protection of the myelin sheath, communication breaks down between your brain and the rest of your body.
This attack, called demyelination, damages the myelin sheath, resulting in myriad symptoms of varied severity.
- Tingling sensations with certain neck movements
- Uncontrolled shaking (tremor), lack of coordination and balance, difficulty walking
- Partial or complete blindness, usually in one eye at a time
- Double or blurred vision
- Broken or slurred speech
- Problems using the bathroom
- Numbness or weakness in the arms or legs, typically occurring on one side of the body at a time
The potentially disabling condition affects twice as many women as men and generally strikes between ages 20-40. Currently, the only way to diagnose the condition is to wait for symptom attacks to occur. And because MS symptoms are similar to several other neurological conditions, nearly 1 in 5 patients are misdiagnosed before seeing an MS specialist.
But innovations in diagnostic testing and medication therapy have made it possible for UT Southwestern MS experts in Dallas and Fort Worth to create personalized plans for our patients to achieve the best outcomes. Those plans are centered around a patient’s:
- Immune system and overall health
- Specific symptoms and severity
- Propensity to develop lesions
- Desire for future fertility, as some drugs cause infertility or subfertility
Advanced treatments are giving more patients a chance at reducing MS symptoms, slowing disease progression, and perhaps one day, reversing the disease altogether.
Who is at risk for MS?
While much remains undiscovered about the causes of multiple sclerosis, we have identified several risk factors, including:
- Ethnicity: Caucasians, especially of Northern European descent, have the highest risk of developing MS.
- Family history: Patients who have a parent or sibling with MS are at increased risk of developing the disease.
- Climate: MS appears to be more prevalent in temperate climates, including the northern U.S. and Canada.
- Infection: Some viral infections, including human herpes virus 6 (HHV-6) and the Epstein-Barr virus (EBV), are associated with MS.
- Smoking: Smokers who have one MS symptom-signaling attack are more likely to have another.
- Vitamin D: Low exposure to sunlight and low vitamin D levels are associated with a greater risk of MS.
How is MS diagnosed?
UT Southwestern follows the McDonald Criteria, along with a patient’s personal health history and imaging, to diagnose MS. The criteria were updated in 2017 to streamline the diagnostic process and reduce misdiagnosis. Through the criteria, a patient must meet three qualifications:
- Two clinical attacks of MS symptoms that last 24 hours or longer: Symptoms vary and may include difficulty remembering things and processing speed; numbness or a tingling sensation in extremities; balance problems; leg weakness; facial pain; bowel or bladder problems; vertigo; and sexual dysfunction.
- Two or more lesions at least 3mm in size, grouped together: Advanced imaging, such as MRI, can help us spot specific brain lesions. Small, non-specific lesions can be caused by migraines or high blood pressure, so we look for larger lesions congregated deep in the brain’s white matter near the ventricles (fluid spaces).
- All other conditions ruled out: Advanced imaging helps us rule out other disorders, such as neuromyelitis optica (NMO) and myelin oligodendrocyte glycoprotein antibody disorder (MOG). Though these conditions present similar symptoms to MS, they are “lookalikes” that will not respond to MS medication.
MS symptoms vary according to the degree or stage of the disease. Since we can’t predict how the disease will progress, we classify the type of MS according to the course of the disease:
- Clinically isolated syndrome (CIS): One episode of neurologic symptoms occurs, lasting 24 hours or longer. If the individual also has lesions on the brain, he or she is at increased risk of developing MS. However, not everyone who experiences a CIS develops MS.
- Relapsing-remitting MS (RRMS): This is the most common disease course and is characterized by clearly defined attacks of new or increasing symptoms. Episodes are followed by periods of recovery where some or all symptoms disappear. Approximately 85% of MS diagnoses are for RRMS.
- Secondary progressive MS (SPMS): RRMS progresses to further neurologic dysfunction over time.
- Primary progressive MS (PPMS): Neurologic dysfunction since the initial onset of symptoms increases, usually without early relapses or remissions.
Depending on symptoms and severity, we can prescribe specific medications to achieve “no evidence of disease activity,” or NEDA. Advances in the last decade – and ongoing research – are giving more patients the chance to achieve NEDA and, in some cases, slow MS disease progression long term.
Tailoring MS treatments to patients’ symptoms
In 1993, the U.S. Food and Drug Administration (FDA) approved the first RRMS medication. The interferon beta-1b injection limited the immune response in the brain, reducing demyelination. Since then, we have found many more options to treat all forms of MS.
Ten more injection medications were developed from 1993-2010. Fifteen more have hit the market since, including infusions and oral pills. The first FDA-approved medication for PPMS, Ocrevus, was developed in 2017. The drug targets and destroys immune system B-cells that malfunction in patients with MS, and it has been shown to prevent the formation of new lesions.
At UT Southwestern, our MS experts personalize medication plans for each patient and every year, we evaluate patients to determine whether new lesions have grown and if their medication is still working as expected. In addition, our patients work with our multidisciplinary team to learn how to navigate challenges with nutrition, exercise, and assistance devices, if needed.
Education is the key to living with MS. The UT Southwestern Multiple Sclerosis and Neuroimmunology Clinic collaborates with the National MS Society to educate and support patients and their families through advocacy, treatment, and research.
A future without MS may be within reach
A major hurdle in diagnosing MS is that 10%-15% of patients don’t qualify for an explicit diagnosis, according to current criteria. If they’ve had a clinical attack or an indicator of MS, they may be on the “MS spectrum” but cannot be definitively diagnosed.
However, ongoing research to identify a biomarker for MS is giving patients and providers hope for a future free from MS. With a biomarker, we could diagnose MS and begin treatment before devastating symptoms occur.
Treatment is also advancing by leaps and bounds. Patients will likely have access to at-home infusion treatments within the next five to 10 years, eliminating the need to travel to the hospital for medication. Ongoing research is also studying stem-cell therapies to essentially reset a patient’s immune system, therefore eliminating the cause of the harmful lesions of MS.
But what has me most excited is the potential to remyelinate axons – potentially reversing the MS disease process and repairing nerve damage if the disease is diagnosed in its early stages. If that happens, patients may see improvement in symptoms, though the symptomatic response will need to be monitored for each patient. It is possible that remyelination programs could become mainstream within the next 50 years.
Today’s patients have more MS treatment options than ever before, and more are developed each year. For the nearly 1 million adults in the U.S. alone with MS, modern medications and collaborative care can significantly improve their quality of life and slow the progression of the disease. And there is data-driven hope that one day we will be able to stop MS complications before they begin.