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Multiple sclerosis

Orpha number ORPHA802
Prevalence of rare diseases 6-9 / 10 000
Inheritance
  • Multigenic/multifactorial
Age of onset Adulthood
ICD 10 code
  • G35
MIM number
Synonym(s) -

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. *Authors: Drs D. Chabas and B. Fontaine, Prof. O. Lyon-Caen (July 2004)*.

Detailed information

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