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Multiple sclerosis

Multiple sclerosis (MS) is a heterogeneous disorder with variable clinical and pathological characteristics that disrupts the flow of information within the brain, and between the brain and body. The inflammation, demyelination and axonal (nerves) degeneration are the principal pathological mechanisms that cause the clinical manifestations of the illness. Nonetheless, the cause of MS is still unknown.

The most accepted theory is that MS begins as an autoimmune inflammatory illness mediated by autoreactive lymphocytes. Later on, the illness is dominated by microglial activation and chronic neurodegeneration.

Multiple sclerosis affects more women than men. The disorder is most commonly diagnosed between ages 20 and 40, but it can be seen at any age. It appears about 5 years earlier in women than in men, and rarely develops after age 70. The incidence and prevalence of multiple sclerosis varies geographically. There is no link between vaccines and MS. Although many viruses, especially Epstein-Barr virus have been linked to MS but there is no specific evidence that these viruses directly affect the development of the illness.

Genetic factors can also contribute to MS pathology, particularly the variation which implicates the HLA-DRB1 locus.

Symptoms

There are no clinical findings that are unique to MS, but some symptoms are highly characteristic of the illness. Common symptoms of MS include sensorial symptoms of the extremities or of the face, vision loss, acute or sub-acute motor weakness, diplopia (double vision), problems walking or balance problems, Lhermitte's sign (an electrical sensation that runs down the back and into the limbs, vertigo, bladder problems, limb ataxia, acute transverse myelopathy and pain.

Initial MS is often polysymptomatic. The typical patient is a young adult who has had two or more clinically distinct episodes of central nervous system dysfunction or, at least, a partial loss. The progression of disability due to MS is quite variable, but the accumulated evidence suggests that its progression in the majority of patients is slow.

In the extremes of the spectrum of severity, there are benign and malignant forms of MS. Benign MS refers to the illness when the neurological system of the patient continues to be completely functional after 15 years from the start of the illness. Malignant MS refers to the rapid progressive course of the illness which leads to a significant incapacity of the multiple neurological systems and even to death in a relatively short time period after the diagnosis of the illness.

Gene or region studied

  • C6orf10
  • IL7R
  • 6p21.32
  • 3q13.11
  • 13q31.3
  • CLEC16A
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