NMO, Causes and Sypmtoms
Neuromyelitis Optica (NMO) aka Devics Disease according to the NORD (National Organization for Rare Diseases) is a rare orphan autoimmune disorder of nerve tissue characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). In the early stages may be confused with Multiple Sclerosis (MS).
Greater than 95% of patients with NMO report no relatives with the disease, but approximately 3% report having other relatives with the condition. There is a strong association with a personal or family history of autoimmunity, which is present in 50% of cases. The exact cause for NMO is unknown. Autoimmune disorders occur when the body’s natural defenses against disease or for unknown reasons, suddenly begin to attack healthy tissue.
The characteristic symptoms of NMO are either optic neuritis or myelitis; either may occur as the first symptom. Optic neuritis is inflammation, of the optic nerve leading to pain inside the eye which rapidly is followed by loss of vision. The other cardinal syndrome is inflammation of the spinal cord, a condition known as transverse myelitis because the symptoms tend to affect all motor, sensory below a certain level on the body. Affected individuals may experience pain in the spine or limbs, and mild to severe paralysis of the lower limbs, and loss of bowel and bladder control. Deep tendon reflexes may be diminished, and variable degree of sensory loss may occur. Affected individuals may also have a stiff neck, back or limb pain, and/or headaches.
Diagnosis, Treatments and Outlook
A diagnosis of NMO is made based upon a detailed patient history, a thorough clinical evaluation, identification of characteristic physical findings, and a variety of specialized tests. Such tests include blood tests, examination of cerebrospinal fluid (CSF), spinal taps, or x-ray procedures such as magnetic resonance imaging (MRIs) or computed tomography (CT or CAT) scans. A blood test, NMO-IgG, is highly specific and moderately sensitive for NMO. It has been shown that it detects antibodies that are specific for an astrocyte protein, aquaporin-4. This is very helpful to request this test at the first significant suspicion of neuromyelitis optica, as it is frequently positive at the time of the very first symptom.
For acute attacks, the standard treatment is high-dose intravenous steroids. Plasma exchange may be effective in patients who experience acute severe attacks that do not respond to intravenous corticosteroids. Long-term suppression of the disease, no specific treatment has been studied in controlled clinical trials, but a variety of immunosuppressive drugs are regarded by many clinicians as first-line therapy. Rituximab has been shown to be helpful in retrospective studies, including in patients who fail first line immunosuppressive treatments. Immunomodulatory drugs for multiple sclerosis are ineffective, and in the case of interferon beta, there is some evidence that suggest that they may be harmful.
Most individuals experience a moderate degree of permanent limb weakness from myelitis. Muscle weakness can cause breathing difficulties and may require the use of artificial ventilation. The National Institute of Neurological Disorders and Stroke Most individuals experience a moderate degree of permanent limb weakness from myelitis. Muscle weakness can cause breathing difficulties and may require the use of artificial ventilation. The death of an individual with NMO is most often caused by respiratory complications from myelitis attacks.
Diagnosis, Treatments and Outlook
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