Multiple Sclerosis (MS)

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MedlinePlus Genetics: ⁴² Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is considered an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs, in this case tissues of the nervous system.Multiple sclerosis usually begins in early adulthood, between ages 20 and 40. The symptoms vary widely, and affected individuals can experience one or more effects of nervous system damage. Multiple sclerosis often causes sensory disturbances in the limbs, including a prickling or tingling sensation (paresthesia), numbness, pain, and itching. Some people experience Lhermitte sign, which is an electrical shock-like sensation that runs down the back and into the limbs. This sensation usually occurs when the head is bent forward. Problems with muscle control are common in people with multiple sclerosis. Affected individuals may have tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness or partial paralysis of the muscles of the limbs, difficulty walking, or poor bladder control. Multiple sclerosis is also associated with vision problems, such as blurred or double vision or partial or complete vision loss. Infections that cause fever can make the symptoms worse.There are several forms of multiple sclerosis: relapsing-remitting MS, secondary progressive MS, primary progressive MS, and progressive relapsing MS. The most common is the relapsing-remitting form, which affects approximately 80 percent of people with multiple sclerosis. Individuals with this form of the condition have periods during which they experience symptoms, called clinical attacks, followed by periods without any symptoms (remission). The triggers of clinical attacks and remissions are unknown. After about 10 years, relapsing-remitting MS usually develops into another form of the disorder called secondary progressive MS. In this form, there are no remissions, and symptoms of the condition continually worsen.Primary progressive MS is the next most common form, affecting approximately 10 to 20 percent of people with multiple sclerosis. This form is characterized by constant symptoms that worsen over time, with no clinical attacks or remissions. Primary progressive MS typically begins later than the other forms, around age 40.Progressive relapsing MS is a rare form of multiple sclerosis that initially appears like primary progressive MS, with constant symptoms. However, people with progressive relapsing MS also experience clinical attacks of more severe symptoms.

MalaCards based summary: Multiple Sclerosis, also known as ms, is related to pediatric multiple sclerosis and autoimmune hepatitis, and has symptoms including tremor, back pain and headache. An important gene associated with Multiple Sclerosis is HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1), and among its related pathways/superpathways are Phosphorylation of CD3 and TCR zeta chains and Cell differentiation - expanded index. The drugs Dalfampridine and Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include Neural Tube and Limb, and related phenotypes are spasticity and diplopia

NINDS: ⁵² An unpredictable disease of the central nervous system, multiple sclerosis (MS) can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the body is disrupted.  Many investigators believe MS to be an autoimmune disease -- one in which the body, through its immune system, launches a defensive attack against its own tissues. In the case of MS, it is the nerve-insulating myelin that comes under assault. Such assaults may be linked to an unknown environmental trigger, perhaps a virus. Most people experience their first symptoms of MS between the ages of 20 and 40; the initial symptom of MS is often blurred or double vision, red-green color distortion, or even blindness in one eye.  Most MS patients experience muscle weakness in their extremities and difficulty with coordination and balance.  These symptoms may be severe enough to impair walking or even standing. In the worst cases, MS can produce partial or complete paralysis.  Most people with MS also exhibit paresthesias, transitory abnormal sensory feelings such as numbness, prickling, or "pins and needles" sensations.  Some may also experience pain.  Speech impediments, tremors, and dizziness are other frequent complaints. Occasionally, people with MS have hearing loss. Approximately half of all people with MS experience cognitive impairments such as difficulties with concentration, attention, memory, and poor judgment, but such symptoms are usually mild and are frequently overlooked.  Depression is another common feature of MS.

MedlinePlus: ⁴¹ Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the myelin sheath, the material that surrounds and protects your nerve cells. This damage slows down or blocks messages between your brain and your body, leading to the symptoms of MS. They can include: Visual disturbances Muscle weakness Trouble with coordination and balance Sensations such as numbness, prickling, or "pins and needles" Thinking and memory problems No one knows what causes MS. It may be an autoimmune disease, which happens when your immune system attacks healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins between the ages of 20 and 40. Usually, the disease is mild, but some people lose the ability to write, speak, or walk. There is no specific test for MS. Doctors use a medical history, physical exam, neurological exam, MRI, and other tests to diagnose it. There is no cure for MS, but medicines may slow it down and help control symptoms. Physical and occupational therapy may also help. NIH: National Institute of Neurological Disorders and Stroke

UniProtKB/Swiss-Prot: ⁷³ A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease.

OMIM®: ⁵⁷ Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder of the central nervous system (CNS) with various degrees of axonal damage. MS affects mainly young adults with predominance for females. The disorder often leads to substantial disability (summary by Bomprezzi et al., 2003). (126200) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.

Wikipedia: ⁷⁵ Multiple sclerosis (MS), also known as encephalomyelitis disseminata, is the most common demyelinating... more...

Clinical features from OMIM®:

Search NIH Clinical Center for Multiple Sclerosis