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Multiple sclerosis

Orpha number ORPHA802
Synonym(s) -
Prevalence 1-5 / 10 000
Inheritance Multigenic/multifactorial
Age of onset Adult
ICD-10
  • G35
ICD-O -
OMIM
UMLS
  • C0026769
MeSH
  • D009103
MedDRA
  • 10028245
SNOMED CT
  • 24700007

Summary

Multiple sclerosis (MS) is an autoimmune and inflammatory demyelinating disease of the central nervous system, often characterized by relapsing episodes of neurologic impairment followed by remissions (relapsing remitting MS). It affects 1 individual in 170 to 4000. In about a third of MS patients, the disease evolves into a progressive course (secondary progressive MS). In a minority of patients, progressive neurologic deterioration without remission occurs from the disease onset (primary progressive MS). The pathological mechanism underlying MS is regarded as an autoimmune attack of the myelin sheat, mediated by both cellular and humoral immunity, and recent data have suggested that MS is also a degenerative disease affecting axons and oligodendrocytes. Genetic and environmental factors influence susceptibility to the disease, but MS is not a genetically inherited condition. MS diagnosis is based on clinical and radiological criteria (Magnetic Resonance Imaging, MRI). In some cases, a lumbar puncture and other non invasive investigations might also be needed. Disabling relapses are treated with intravenous injections of high doses of corticosteroids. In relapsing remitting MS, immunomodulatory treatments like interferon beta and copolymer reduce the risk of relapses. These treatments are administered by injections at least once a week. Immunosuppressors might also be used in aggressive forms of the disease, most of the time intravenously. Physical therapy plays a key role in the management of MS disability. Depending on the symptoms (tremor, spasticity), other specific medication might be indicated.

Expert reviewer(s)

  • Chritophe BOULAY
  • Dr Dorothée CHABAS

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Detailed information

Clinical genetics review
  • EN (2010)
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