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Multiple Sclerosis: A Modern Understanding of the Disease – Causes, Symptoms, Diagnosis, and Treatment

Updated: Jul 9


Multiple sclerosis (MS) is one of the most significant autoimmune diseases of the central nervous system (CNS) and has been the focus of numerous scientific studies over the past decades. With rapid advances in medicine and technology, our understanding of the pathogenesis, diagnosis, and treatment of MS is continually evolving. This article summarizes the current state of medical knowledge on MS—with special emphasis on topics important to patients, their families, and anyone interested in understanding the condition.



Brief Description and Nature of the Disease 

MS is a chronic, immune-mediated disease that affects the brain and spinal cord. In MS, the immune system mistakenly attacks myelin—the protective sheath covering nerve fibers—leading to inflammatory destruction (demyelination) and subsequent neurodegeneration. This disrupts the normal transmission of electrical impulses between the brain and the rest of the body and, over time, causes irreversible damage to motor, sensory, and cognitive functions.

MS typically appears in young adults, most often between the ages of 20 and 40, and affects women 2–3 times more frequently than men. The course of the disease can vary—from relapsing-remitting (alternating flare-ups and periods of remission) to progressive (a slow but steady worsening over time).


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Causes and Risk Factors 

Despite extensive research, the exact cause of MS remains unclear. The latest evidence suggests that its development results from a complex interaction between genetic and environmental factors:

  • Genetic predisposition: Certain genes (e.g., HLA-DR15) have been identified that significantly increase the risk of MS, though the disease is not directly inherited.

  • Environmental factors: Among the most prominent are Epstein–Barr virus (EBV) infection, vitamin D deficiency (often due to low sun exposure), smoking, and adolescent obesity.

  • Epigenetics and interactions: Environmental influences intertwine with genetics—for example, early exposure to tobacco smoke or insufficient sunlight during childhood may modulate immune responses and increase the risk.



Key Symptoms 

The clinical presentation of MS is highly variable and depends on the location and severity of CNS damage:

  • Visual disturbances: Episodes of blurred vision, double vision, or painful optic neuritis are common early signs.

  • Sensory disturbances: Numbness, tingling, stiffness, and reduced sensation in the limbs.

  • Motor impairments: Muscle weakness, poor coordination and balance, and walking difficulties.

  • Cognitive and emotional symptoms: Problems with memory and concentration, fatigue, and depression—which may appear even in early stages.

  • Bladder and bowel dysfunction: Frequently occurring and socially significant complications.

  • Types of MS: The most common is the relapsing-remitting form, but some patients develop primary or secondary progressive forms, where symptoms worsen gradually without distinct flare-ups.



Diagnosis – Expert Approaches 

Diagnosing MS requires evidence of lesion dissemination in space and time using a combination of clinical, imaging, and laboratory tests:

  • Imaging: Magnetic resonance imaging (MRI) is the gold standard for detecting characteristic lesions in the brain and spinal cord. MRI with contrast (gadolinium) is especially valuable for identifying active inflammation.

  • Cerebrospinal fluid (CSF) testing: Analysis of CSF for oligoclonal bands and intrathecal IgG synthesis—hallmarks of MS.

  • McDonald Criteria: Modern diagnosis relies on the revised McDonald criteria (2017), which allow for earlier and more accurate diagnosis but require expertise and caution due to the risk of overdiagnosis in atypical cases.

  • Exclusion of other conditions: Since MS can mimic many other neurological disorders, these must be ruled out before a definitive diagnosis is made.



Treatment and Recommendations – Official Guidelines 

The medical strategy for MS focuses on early, active, and individualized treatment:

  • Disease-modifying therapies (DMTs): The primary goal is to suppress inflammatory activity and slow disease progression. Traditional agents include interferons and glatiramer acetate, but monoclonal antibodies (e.g., ocrelizumab) are increasingly used for more active disease.

  • Innovative approaches: New drugs such as siponimod and ozanimod broaden treatment options for relapsing forms. Ongoing clinical trials for remyelination-stimulating drugs (e.g., PIPE-307) offer hope for reversing existing damage.

  • Monitoring and safety: Strict monitoring for possible side effects, up-to-date vaccination status, and personalized follow-up therapy are part of current best practices.

  • Symptomatic treatment: Physical therapy, psychological support, and rehabilitation are essential for achieving optimal quality of life.

  • Pediatric and special cases: In children with MS or particularly aggressive disease, more complex combination therapies are used.

  • Prevention and control of risk factors: Emphasis on smoking cessation, optimal vitamin D levels, and a healthy lifestyle.



Latest Scientific Discoveries

  • Imaging: New MRI techniques (e.g., central vein sign, paramagnetic rim lesions) promise more precise diagnostics but require standardization.

  • Biomarkers: Serum neurofilament light chain (NfL) is emerging as a promising tool for tracking nerve damage and disease activity.

  • Genetic research: Modern techniques like Mendelian randomization are beginning to shed light on the interaction between genes and environment, which may eventually enable targeted prevention in high-risk groups.

  • Telemedicine: Virtual interventions and remote rehabilitation expand support options for patients, especially for those with cognitive symptoms.



Expert Consensus

Leading specialists emphasize the following key principles:

  • Early diagnosis and treatment are critical for limiting long-term disability.

  • Standardized diagnosis using the McDonald criteria, MRI, and CSF analysis.

  • Focus on modifying risk factors and educating patients.

  • A multidisciplinary approach—combining pharmacotherapy, rehabilitation, and psychosocial support.



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