Multiple Sclerosis.Care & specialists in Italy

MS is not curable today, but it is increasingly treatable. High-efficacy disease-modifying therapies can stop new relapses and MRI activity in many patients, and autologous stem cell transplant produces lasting remission in a selected subset. The goal of modern care is no evidence of disease activity — no relapses, no new MRI lesions, and no disability progression — for as long as possible.

The most common first attack is optic neuritis, with subacute monocular vision loss and pain on eye movement building over hours to days. Other common first presentations include numbness or weakness in a limb, double vision, vertigo, or a banding sensation around the trunk from partial transverse myelitis. Symptoms typically last more than 24 hours and partially recover.

MS is diagnosed using the 2017 McDonald criteria, which combine clinical history, neurological exam, and MRI evidence of demyelinating lesions spread across the brain and spinal cord and across time. A lumbar puncture showing CSF-restricted oligoclonal bands supports the diagnosis. AQP4 and MOG antibody testing rules out the main mimics.

MS is caused by an autoimmune attack on myelin in the brain and spinal cord, in genetically susceptible people exposed to particular environmental triggers. The strongest established trigger is Epstein-Barr virus, which precedes nearly every case and raises risk approximately 32-fold. Low vitamin D in adolescence, cigarette smoking, adolescent obesity, and HLA-DRB1*15:01 contribute additional risk.

MS has a genetic component but is not inherited in a simple pattern. First-degree relatives of MS patients have roughly a 3-5% lifetime risk, compared with about 0.3% in the general population. Identical twin concordance is 25-30%. Over 230 risk variants have been identified; carrying them raises probability but does not guarantee disease.

The four recognised phenotypes are clinically isolated syndrome (a first demyelinating attack), relapsing-remitting MS (the most common, with relapses and recovery), secondary progressive MS (which can develop from relapsing-remitting disease), and primary progressive MS (with steady disability accumulation from the start without distinct relapses).

Progression rates vary widely. Historical untreated cohorts showed a median time of about 15 years to needing a walking aid. Modern patients on high-efficacy disease-modifying therapy started early often remain ambulatory beyond 25-30 years, and a meaningful minority maintain no evidence of disease activity over a decade.

Current evidence increasingly supports starting a high-efficacy disease-modifying therapy at diagnosis rather than escalating from a platform drug, especially with active MRI or disabling first attacks. Anti-CD20 agents (ocrelizumab, ofatumumab, ublituximab), natalizumab, and cladribine are the most effective options, with relative relapse reductions of 50 to 90 percent.

A relapse is the appearance of a new neurological symptom or clear worsening of an old one lasting more than 24 hours, without fever or infection. Common patterns include new numbness or weakness in a limb, eye pain with vision blurring, double vision, bladder urgency, or unsteady walking. Symptoms typically build over hours to days, plateau, and then partially recover over weeks.

Disabling relapses are treated with high-dose intravenous methylprednisolone, typically 1 g daily for 3-5 days, which shortens the relapse but does not change long-term disability. Oral high-dose steroids are an equivalent alternative. Plasma exchange over 5-7 sessions is used when steroids fail, especially in severe optic neuritis or transverse myelitis.

Yes. Fertility is unaffected by MS, and pregnancy is associated with lower relapse rates, especially in the third trimester. Disease-modifying therapy needs review before conception — fumarates, S1P modulators, and cladribine should be stopped pre-conception; ocrelizumab and glatiramer are commonly continued or restarted near delivery.

Neuromyelitis optica spectrum disorder (NMOSD) targets the same regions as MS but is driven by AQP4 antibodies in 70-80% of cases. NMOSD attacks are typically more severe, involve longitudinally extensive spinal lesions over three or more vertebral segments, and may affect both optic nerves simultaneously. Standard MS therapies can worsen NMOSD.

Women are diagnosed with MS approximately three times more often than men. The ratio has risen from roughly 2:1 in the 1950s to 3:1 today, suggesting environmental factors interacting with sex are at work. Men with MS tend to be diagnosed slightly later and have somewhat worse motor and cognitive outcomes on average.

Yes. Around half of MS patients have measurable cognitive impairment over the disease course, most often slowed processing speed and reduced working memory. The Symbol Digit Modalities Test is a sensitive screening tool. Cognitive rehabilitation, treatment of underlying mood disorders, and effective disease-modifying therapy all help preserve cognitive function.

MS fatigue affects 75-90% of patients and responds to a combination of structured exercise, sleep optimisation, cooling strategies, and medications such as amantadine or modafinil. Underlying depression, sleep apnoea, anaemia, and thyroid dysfunction should be screened for and treated, since they amplify MS-related fatigue. Cognitive behavioural therapy reduces fatigue impact in randomised trials.

A Mediterranean-style diet rich in vegetables, legumes, whole grains, fish, and olive oil is associated with lower disability scores in observational studies. Adequate vitamin D status is associated with fewer relapses. There is no strong evidence supporting more restrictive diets such as Wahls or Swank over Mediterranean eating.

Most MS clinicians recommend maintaining serum 25-hydroxyvitamin D between 30 and 50 ng/mL, typically with 2000-4000 IU of vitamin D3 daily. Observational data link adequate vitamin D status with lower relapse rates and reduced MRI activity. Definitive phase 3 evidence is pending, but the supplement is safe, inexpensive, and supports bone health.

Disease-modifying therapy in the United States ranges from roughly USD 70,000 to 100,000 per year list price for high-efficacy infusions, though net pricing after insurance and patient assistance is typically much lower. In Europe prices are 30-60% lower under national health systems. In India and other emerging markets, generic glatiramer and interferons are available.

Stressful life events have been associated with a modest increase in relapse risk in some studies, though the effect is small compared with established triggers such as infection or postpartum hormonal changes. Stress reduction, sleep, and routine mental health care are part of well-rounded MS management, but stress is not a primary cause of MS itself.

Progression independent of relapse activity (PIRA) refers to gradual disability accumulation in MS patients without new relapses or new MRI lesions. PIRA is increasingly recognised as the dominant driver of long-term disability in modern, well-treated cohorts and is the target of next-generation drugs such as Bruton tyrosine kinase inhibitors currently in phase 3 trials.

Yes. Routine inactivated vaccines including annual influenza, COVID-19 boosters, and pneumococcal vaccination are recommended for nearly all MS patients. Live vaccines (yellow fever, varicella, MMR) should be completed before starting strongly immunosuppressive disease-modifying therapy such as anti-CD20 antibodies.

See a neurologist promptly for any subacute neurological symptom lasting more than 24 hours — vision loss in one eye, persistent numbness or weakness in a limb, double vision, vertigo, or a clear sensory level on the trunk — particularly between ages 15 and 50. Early diagnosis allows early disease-modifying therapy, which has the largest impact on long-term outcome.