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Multiple sclerosis

Definition:

  • Multiple Sclerosis (MS) is a chronic autoimmune, demyelinating disorder of the central nervous system (CNS) that can result in a wide range of neurological symptoms.

Epidemiology:

  • More common in women.
  • Typically diagnosed in young adults aged 20-40 years.

Etiology:

  • The exact cause is unknown.
  • Thought to involve an interplay of genetic susceptibility and environmental factors (e.g., viral infections, vitamin D deficiency).

Pathophysiology:

  • Characterized by inflammation and demyelination in the CNS, leading to the formation of plaques or scars in the brain and spinal cord.
  • These changes disrupt nerve signal transmission.

Types:

  1. Relapsing-Remitting MS (RRMS):
    • Most common form. Characterized by distinct attacks of symptoms (relapses) followed by periods of partial or complete recovery (remissions).
  2. Secondary Progressive MS (SPMS):
    • Initial relapsing-remitting course followed by progression with or without occasional relapses, minor remissions, and plateaus.
  3. Primary Progressive MS (PPMS):
    • Steady worsening of disease from the onset without early relapses or remissions.
  4. Progressive-Relapsing MS (PRMS):
    • Progressive from the onset, with clear acute relapses, with or without full recovery.

Clinical Features:

  • Symptoms vary widely and can include visual disturbances, muscle weakness, coordination and balance problems, numbness, and cognitive changes.
  • Fatigue is a common and debilitating symptom.

Diagnosis:

  • MRI is the most sensitive tool for detecting CNS lesions typical of MS.
  • Additional diagnostics: Lumbar puncture for CSF analysis, evoked potentials to assess nerve signal transmission.
  • McDonald criteria used to integrate clinical and radiographic data for diagnosis.

Management:

  • Disease-modifying therapies (DMTs) to reduce relapses and slow progression.
  • Symptomatic treatments for fatigue, spasticity, pain, bladder and bowel problems, and cognitive issues.
  • Multidisciplinary approach including physical therapy, occupational therapy, and cognitive rehabilitation.

Prognosis:

  • Highly variable and unpredictable.
  • Most people with MS do not become severely disabled, but can have a reduced quality of life.
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