What are the possible presentations of Multiple Sclerosis (MS)?

Possible Presentations of Multiple Sclerosis (MS)

Multiple sclerosis presents with a wide range of clinical manifestations depending on which areas of the central nervous system are affected, with the most common presentations being sensory disturbances, motor weakness, optic neuritis, fatigue, and coordination problems. 1

Common Initial Presentations

• Visual symptoms:

  • Optic neuritis (20-31% of initial presentations) 2
  • Manifests as visual impairment, scotoma, red-green desaturation, pain with ocular movement
  • Patients with isolated optic neuritis are more likely to have a monophasic illness unless they have CSF oligoclonal bands or silent brain MRI lesions 2

• Sensory disturbances (most common presentation - 39-46% of patients) 3:

  • Numbness, tingling, paresthesias
  • Lhermitte's sign (electric shock sensation down the spine with neck flexion)
  • Sensory loss

• Motor symptoms (36-62% of patients) 3:

  • Weakness in limbs
  • Spasticity
  • More common in progressive forms of MS

• Balance and coordination problems (27% of patients before diagnosis) 3:

  • Ataxia
  • Impaired coordination
  • Tremor
  • Internuclear ophthalmoplegia (brainstem syndrome)

• Fatigue (29% of patients before diagnosis, 73% during disease course) 3:

  • Disproportionate to physical activity
  • Often worsens with heat exposure

MS Subtypes and Their Presentations

1. Relapsing-Remitting MS (RRMS) - 85% of cases 1:

   • Characterized by clearly defined relapses with full or partial recovery
   • Periods of stability between relapses
   • Predominant symptoms: sensory and motor complaints, imbalance 3
   • 50.7% of RRMS patients may be asymptomatic between relapses 3

2. Primary Progressive MS (PPMS) - 15% of cases 1:

   • Steady progression of disability from onset without relapses
   • Predominant symptoms: motor problems, imbalance, genitourinary symptoms 3
   • Later onset than RRMS (typically 40+ years)

3. Secondary Progressive MS (SPMS):

   • Follows RRMS with gradual worsening
   • Similar symptom profile to RRMS but with persistent progression
   • Continued motor symptoms, imbalance, and fatigue 3

Additional Presentations by System

• Bladder, Bowel, and Sexual Function:

  • Urinary urgency, frequency, incontinence, or retention
  • Constipation or bowel incontinence
  • Sexual dysfunction (erectile dysfunction, decreased libido)

• Cognitive and Psychiatric:

  • Cognitive impairment (processing speed, memory, attention)
  • Depression (reactive or as direct result of MS)
  • Emotional lability

• Pain:

  • Neuropathic pain
  • Trigeminal neuralgia
  • Musculoskeletal pain from altered gait/posture

• Less Common Presentations:

  • Dysarthria and dysphagia
  • Vertigo
  • Tremors
  • Hearing loss
  • Seizures (rare)

Radiologically Isolated Syndrome (RIS)

• Incidental MRI findings consistent with MS in asymptomatic individuals
• Not diagnosed as MS without clinical events
• About one-third develop neurological symptoms within five years 2
• Risk factors for clinical conversion include:
  • Presence of gadolinium-enhancing lesions
  • Asymptomatic spinal cord lesions
  • Presence of oligoclonal bands
  • Younger age
  • Male sex
  • Abnormal visual evoked potentials 2

Diagnostic Considerations

• MS diagnosis requires evidence of damage in different parts of the nervous system (dissemination in space) and evidence of damage occurring at different times (dissemination in time) 1
• MRI is essential for diagnosis, looking for T2-hyperintense and gadolinium-enhancing lesions 1
• Spinal cord MRI is particularly important when brain findings are minimal 1
• Lumbar puncture helps evaluate for oligoclonal bands and rule out infectious causes 1

Clinical Pearls and Pitfalls

• The presence of even one clinically silent T2 hyperintense brain lesion in children with optic neuritis is highly associated with MS diagnosis 2
• Three or more periventricular lesions are required to contribute to the demonstration of dissemination in space in adults 2
• Cortical lesions are identified in more than 30% of patients at clinical presentation 2
• Always consider MS mimics such as neuromyelitis optica spectrum disorders (NMOSD) and MOG-associated encephalomyelitis 1
• The 2017 McDonald criteria should be used for diagnosis, incorporating clinical assessment, MRI findings, and CSF analysis when indicated 1