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Multiple sclerosis

Overview

Multiple sclerosis (MS) is an autoimmune disease in which the immune system attacks the protective sheath (myelin) of nerve fibers in the central nervous system. There are approximately 30,000 MS patients in our country.

It usually affects young adults between ages 20-40. It is 2-3 times more common in women than men. Without treatment, it can lead to disability; however, new treatments have significantly changed the disease course.

Types

1. Relapsing-remitting MS (RRMS):

  • Most common (85%)
  • Attack and remission periods

2. Secondary progressive MS (SPMS):

  • Progression of RRMS
  • Worsening without attacks

3. Primary progressive MS (PPMS):

  • Progressive from the start
  • No attacks
  • 10-15%

4. Clinically isolated syndrome (CIS):

  • First attack
  • Risk of progression to MS

Symptoms

Highly variable. Attack duration: a few days to weeks.

Visual:

  • Blurred vision or vision loss in one eye (optic neuritis)
  • Double vision
  • Pain with eye movements

Motor:

  • Weakness in one or both arms/legs
  • Spasticity (muscle stiffness)
  • Difficulty walking
  • Coordination problems
  • Tremor

Sensory:

  • Numbness, tingling
  • Electric shock sensation (with neck flexion - Lhermitte's sign)
  • Pain
  • Hot-cold sensation disorder

Bladder and bowel:

  • Frequent or urgent urination
  • Urinary incontinence
  • Inability to urinate
  • Constipation

Cognitive:

  • Difficulty concentrating
  • Memory problems
  • Slow information processing

Other:

  • Extreme fatigue (most common)
  • Dizziness
  • Sexual dysfunction
  • Speech disorders
  • Swallowing difficulty
  • Depression
  • Anxiety
  • Thermal sensitivity (worsening of symptoms with heat)

Causes

The exact cause is unknown; multifactorial:

Genetic:

  • HLA-DRB1 gene
  • Family history (20-40% risk increase)

Environmental:

  • Vitamin D deficiency
  • Geographic location (increases with distance from equator)
  • Epstein-Barr virus infection
  • Smoking
  • Obesity (in childhood)

Autoimmune:

  • Misactivated T cells
  • Attack on myelin antigens

Risk Factors

  • Ages 20-40
  • Being female
  • White race (Northern European descent)
  • Family history
  • Vitamin D deficiency
  • Smoking
  • History of EBV infection
  • Living in regions far from the equator

Complications

  • Disability (walking difficulty, wheelchair)
  • Spasticity, muscle atrophy
  • Bladder, bowel problems
  • Urinary tract infections
  • Pressure ulcers
  • Osteoporosis
  • Depression, anxiety
  • Cognitive decline
  • Aspiration pneumonia
  • Loss of work
  • Social isolation

When to See a Doctor

  • Unexplained vision disturbances
  • Unilateral weakness, numbness (lasting more than 24 hours)
  • Balance and coordination problems
  • If symptoms last for days-weeks
  • Recurring neurological symptoms
  • Unexplained neurological complaint if family history exists

Diagnosis and Treatment

Diagnosis:

  • Detailed neurological examination
  • MRI (brain, spinal cord): Demyelinating lesions
  • CSF (cerebrospinal fluid) analysis: Oligoclonal bands
  • Visual evoked potentials (VEP)
  • McDonald criteria (dissemination in time and space)
  • Blood tests (differential diagnosis)

Treatment:

1. Attack treatment:

  • High-dose IV corticosteroid (methylprednisolone 1 g/day × 3-5 days)
  • Plasmapheresis (in resistant cases)

2. Disease-modifying therapies (DMTs):

First line (moderate efficacy):

  • Interferon beta (Avonex, Betaferon, Plegridy)
  • Glatiramer acetate (Copaxone)
  • Teriflunomide (Aubagio)
  • Dimethyl fumarate (Tecfidera)

Higher efficacy:

  • Fingolimod, ozanimod, ponesimod
  • Natalizumab (Tysabri)
  • Ocrelizumab (Ocrevus) - also effective in PPMS
  • Ofatumumab
  • Alemtuzumab
  • Cladribine

New:

  • Ublituximab

3. Symptomatic treatment:

  • Fatigue: amantadine, modafinil
  • Spasticity: baclofen, tizanidine
  • Pain: gabapentin, pregabalin
  • Bladder: oxybutynin
  • Walking: dalfampridine
  • Depression: SSRI
  • Tremor: propranolol

4. Rehabilitation:

  • Physical therapy
  • Occupational therapy
  • Speech therapy
  • Cognitive rehabilitation

5. Autologous stem cell transplant:

  • In very active cases
  • Emerging treatment

Lifestyle and Prevention

Prevention (no definitive prevention but risk can be reduced):

  • Adequate vitamin D
  • Do not smoke
  • Maintain a healthy weight
  • Avoid EBV infection (difficult)
  • Regular exercise

Lifestyle after diagnosis:

  • Do not interrupt your DMT treatment
  • Regular exercise (very important, preserves function)
  • Mediterranean-style nutrition
  • Vitamin D supplementation
  • Quit smoking
  • Manage stress
  • Avoid extreme heat (worsens symptoms)
  • Adequate sleep
  • Discuss vaccinations (caution with live vaccines during treatment)
  • Regular MRI follow-up
  • Get support for depression, anxiety
  • MS patient groups (psychosocial support)
  • Ergonomic home arrangement
  • Flexible work arrangement
  • Inform family members