Multiple Sclerosis
Multiple sclerosis is a chronic condition characterized by immune-mediated damage to the myelin sheath in the central nervous system, leading to a wide range of neurological symptoms that vary significantly between individuals.
Overview
Multiple sclerosis (MS) is a condition characterized by areas of injury, known as lesions, in the central nervous system. These lesions are associated with damage to the myelin sheath, which is the protective covering that allows nerves to transmit impulses efficiently. The term “sclerosis” refers to the scar tissue that forms when the myelin sheath is damaged. These damaged areas can be visualized on a magnetic resonance imaging (MRI) scan.
The specific features and course of the disease vary widely among affected individuals. Signs and symptoms usually begin between the ages of 20 and 40. MS is broadly classified into two main categories:
- Relapsing-remitting MS (RRMS): The most common diagnosis, characterized by periods of active symptoms (relapses) followed by periods of partial or complete recovery (remission).
- Progressive MS: Diagnosed in up to 15 percent of individuals, this form is characterized by symptoms that gradually worsen over time without typical periods of relapse and remission.
Symptoms
Symptoms of MS can affect various parts of the body and cognitive functions. Common manifestations include:
- Sensory disturbances: Prickling or tingling sensations (paresthesia), numbness, or pain in the arms, legs, or face.
- Lhermitte’s sign: An electrical shock-like sensation running down the back and into the arms or legs, typically occurring when the head is bent forward.
- Muscle control issues: Muscle stiffness (spasticity), weakness, or balance and coordination problems (ataxia), which can make standing and walking difficult. Some individuals may develop partial or complete paralysis.
- Visual problems: Blurred or double vision, and optic neuritis (inflammation of the optic nerve), which can cause eye pain and vision loss.
- Other neurological effects: Dizziness, poor bladder or bowel control, and difficulties with speech, concentration, memory, or judgment.
It is important to note that infections or fever can exacerbate the signs and symptoms of MS.
Causes & Risk Factors
MS is likely caused by a combination of genetic, environmental, and lifestyle factors. In people with MS, the immune system abnormally attacks the body's own tissues, triggering inflammation that damages the myelin sheath in the brain and spinal cord. Over time, nerve cells lacking myelin become more prone to damage and may die off, creating larger areas of injury in the nervous system.
Genetic Factors
Common genetic changes in or near hundreds of genes contribute to the risk of developing MS, many of which provide instructions for proteins involved in the immune system. Key genetic associations include:
- HLA Complex: Changes in genes within the human leukocyte antigen (HLA) complex are associated with MS. These genes help the immune system distinguish between the body's own proteins and foreign invaders.
- HLA-DRB1*15:01: The most well-established genetic risk factor is an allele of the HLA-DRB1 gene called HLA-DRB1*15:01. This gene provides instructions for making a protein that initiates an immune response. Researchers are currently investigating how this allele interacts with others to influence risk.
Environmental & Lifestyle Factors
Certain environmental and lifestyle factors are believed to increase the risk of developing MS, particularly when present during childhood or adolescence. These include:
- Epstein-Barr virus infections
- Lack of exposure to sunlight
- Vitamin D deficiency
- Obesity
- Smoking and exposure to secondhand smoke
Inheritance
MS does not follow a clear inheritance pattern because it involves a complex interplay of genetic, lifestyle, and environmental factors. However, the risk of developing MS is higher for close family members of affected individuals than for the general population.
Frequency
An estimated 2.8 million people worldwide have MS. Approximately 2.1 in 100,000 people receive a diagnosis each year. The condition is more common in women and in white people of northern European descent.
Other Names
- Disseminated sclerosis
- MS
