Neuromyelitis optica

What causes neuromyelitis optica?

Neuromyelitis optica is considered an autoimmune disease in which the immune system mistakenly attacks cells and proteins in the spinal cord and optic nerves. Unfortunately, the reason that the immune system functions abnormally is not known.

In rare cases, more then one person in a family may have neuromyelitis optica. Additionally, many people with neuromyelitis optica have another autoimmune disease, or have family members with an autoimmune disease. While this suggests genes play a role in predisposing a person to the disease, no responsible genes have been found.

There have been a few cases of neuromyelitis optica occurring in association with certain viruses (e.g., syphilis, HIV, chlamydia, varicella, cytomegalovirus, and Epstein Barr virus). The nature of this link is not clear. It is possible that certain infections may trigger neuromyelitis optica in people who are predisposed to the condition.

Last updated on 05-01-20

How is neuromyelitis optica diagnosed?

A diagnosis of neuromyelitis optica (NMO) is based upon the presence of characteristic symptoms, imaging studies of the brain, spinal cord and eyes, as well as results of laboratory tests. Additionally, other more common conditions (particularly multiple sclerosis) must be ruled out.

Imaging studies may include magnetic resonance imaging (MRI scan) of the brain, spinal cord and orbits (eyes), and optical coherence tomography (specialized pictures of the retina).

Laboratory tests may include:

  • A blood test for aquaporin-4 (also known as NMO-IgG) - this test detects the aquaporin-4 antibody, which specifically indicates the diagnosis when characteristic symptoms are present. It also helps to distinguish the disease from multiple sclerosis (in which this antibody is not present). However, the absence of this antibody does not mean that a person does not have NMO.
  • Examination of the cerebrospinal fluid - this may show high levels of white blood cells and proteins.

Last updated on 05-01-20

Is neuromyelitis optica inherited?

Neuromyelitis optica usually is not inherited. The disease typically occurs in only one person in a family. However, about 3% of people with neuromyelitis optica report having a family member with the disease. It is possible that some people have a genetic predisposition (or susceptibility) to developing neuromyelitis optica. However, it is likely that unknown environmental factors are also involved.

Last updated on 05-01-20

What is the long-term outlook for people with neuromyelitis optica?

The severity of impairment and life expectancy may depend on the severity of the first (or only) episode, the number of relapses within the first two years, and a person's age when the disease begins. In general, the outlook (prognosis) is thought to be worse for people who have severe symptoms during the first episode, have many relapses within a shorter amount of time, and/or are older when the disease begins.

For people with the relapsing form (90% of those with the disease), each episode causes more damage to the nervous system. Often this eventually leads to permanent muscle weakness, paralysis, and/or vision loss within 5 years. People with the monophasic form (those who experience one episode) can also have lasting impairment of muscle function and vision.

The disease reportedly may ultimately be fatal in 25-50% of people, with loss of life most commonly due to respiratory failure. However, the life expectancy varies from person to person.

Last updated on 05-01-20

How might neuromyelitis optica be treated?

There is no cure for neuromyelitis optica, but there are therapies aimed at treating episodes in progress, reducing symptoms, and preventing relapses.

Sudden episodes and relapses are usually treated with intravenous corticosteroids. If this does not relieve symptoms, plasma exchange may be effective. Low doses of carbamazepine may be used to control painful muscle spasms during an episode. Muscle relaxants may be used for spasticity that develops in those with permanent muscle dysfunction.

For prevention of recurrent episodes, the main treatment is long-term use of medication that suppresses the immune system (systemic immunosuppressive therapy). There are no controlled trials evaluating this treatment, so recommendations are generally based on data from observational studies and by the experience of experts who have treated the disease.

People with severe, permanent symptoms may benefit from collaborating with occupational therapists, physical therapists, and social services professionals to address their rehabilitation needs.

Last updated on 05-01-20

Selected Full-Text Journal Articles

Devic disease free full text article Trebst et al

Last updated on 04-27-20

Name: Siegel Rare Neuroimmune Association SRNA 1787 Sutter Parkway
Powell, OH, 43065-8806, United States
Phone: +1-614-317-4884 Toll Free: 1-855-380-3330 (Helpline) Email: https://www.surveymonkey.com/r/MyelitisHelpLine Url: https://wearesrna.org/ (Formerly the Transverse Myelitis Foundation)
Name: Guthy-Jackson Charitable Foundation 10525 Vista Sorrento Pkwy, #210
San Diego, CA, 92121, United States
Phone: 858-638-7638 Fax : 858-638-7698 Email: info@guthyjacksonfoundation.org Url: http://www.guthyjacksonfoundation.org/ The Foundation also provides a list of additional support groups for neuromyelitis optica that can be filtered by topic or type of group: https://guthyjacksonfoundation.org/support-groups/
Name: American Autoimmune Related Diseases Association (AARDA) 22100 Gratiot Avenue
Eastpointe, MI, 48021, United States
Phone: 586-776-3900 Toll Free: 800-598-4668 Fax : 586-776-3903 Email: aarda@aarda.org Url: https://www.aarda.org/

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