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Multiple Sclerosis, Genetic Testing

Multiple sclerosis is a chronic autoimmune condition that affects the central nervous system, leading to a variety of neurological symptoms such as fatigue, muscle weakness, and coordination problems. Treatment options aim to manage symptoms and modify the course of the disease, often with medications and physical therapy. The assessment of the Polygenic Risk Score for multiple sclerosis is based on examining 190 gene polymorphisms.

Genetic testing for multiple sclerosis is included along with 15 other diseases in the Genetic Screening for Nervous System Diseases, Polygenic Risk Score, and in the Genetic Screening for Immune Diseases, Polygenic Risk Score, along with 12 other diseases.

Causes and non-genetic risk factors

It is not clear what causes the immune system to attack the myelin sheath, however, studies suggest that in addition to the genetic component, several external factors may contribute to trigger the disease.

  • Age: onset is most common between 20 and 40, although it can occur at any age.
  • Gender: women are 2-3 times more likely to present relapsing-remitting multiple sclerosis.
  • Viral infections: Epstein-Barr is associated with an increased risk of multiple sclerosis.
  • Race: people, especially of Northern European descent, are at higher risk compared to those of Asian, African, or Native American descent.
  • Climate: the disease is more common in countries with temperate climates, such as Europe, Canada, the northern United States, or southeastern Australia.
  • Vitamin D: lower vitamin D levels and sun exposure are associated with increased risk.
  • Other autoimmune disorders: thyroid disease, pernicious anemia, psoriasis, type 1 diabetes or inflammatory bowel disease increase the risk.
  • Smoking: smokers have an increased risk of relapsing-remitting multiple sclerosis.
  • Childhood obesity: individuals with obesity during adolescence would present an increased risk.
Symptoms

Multiple sclerosis (MS) can cause a wide range of symptoms and affect any part of the body. Each person is affected differently depending on the location of the affected nerve fibers. Symptoms are unpredictable, sometimes developing and worsening steadily, while at other times, they come and go. Periods when symptoms worsen are known as relapses, while those when they improve or disappear are known as remissions.

Most people with MS have only a few of these symptoms, which are the most common:

  • Fatigue, numbness, tingling, pain.
  • Muscle spasms, stiffness, and weakness.
  • Tremors, lack of coordination or unsteady gait, mobility problems.
  • Speech and swallowing difficulties.
  • Problems with thinking, learning, and planning.
  • Depression and anxiety.
  • Vision, sexual, urinary, and bowel problems.
Prevention

There are no effective preventive measures since the causes that trigger the autoimmune attack against the central nervous system are unknown. However, as in almost all pathologies, specific recommendations could be helpful, mainly related to a healthy lifestyle. Quitting smoking, eating a healthy diet low in saturated fats, keeping stress levels low, and exercising regularly. In addition, sun exposure and supplementing vitamin D intake, if necessary, are recommended.

Additional information
Results Time4 - 5 Weeks
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