Neuromyelitis optica

Title

Other Names:

Devic syndrome; NMO; Devic's neuromyelitis optica; Devic syndrome; NMO; Devic's neuromyelitis optica; Devic disease; NMO spectrum disorder See More

Categories:

Eye diseases; Nervous System Diseases

Summary Summary

Neuromyelitis optica is an autoimmune disease that affects the spinal cord and optic nerves (nerves that carry visual messages to and from the brain). In neuromyelitis optica, the body's immune system mistakenly attacks healthy cells and a substance called myelin in the spinal cord and eyes. Symptoms may begin in childhood or adulthood. Spinal cord involvement results in transverse myelitis, which may cause pain, paralysis and abnormal sensations in the spine and limbs. Bladder and bowel problems may also develop. Symptoms from optic nerve involvement include eye pain and vision loss from optic neuritis. Other symptoms of neuromyelitis optica may include episodes of nausea, vomiting, and hiccups.^[1]^[2] Some people have episodes of symptoms months or years apart (the relapsing form), while others have a single episode lasting several months (the monophasic form). In either form, people with neuromyelitis optica often develop permanent muscle weakness and vision loss.^[3]

The cause of the immune system dysfunction leading to neuromyelitis optica is not known.^[1]^[2] It usually occurs in only one person in a family.^[4] There is no cure, but there are therapies to reduce symptoms during episodes and prevent relapses.^[1]

Last updated: 11/6/2017

Symptoms Symptoms

The most common signs and symptoms of neuromyelitis optica are optic neuritis (inflammation of the optic nerve) and transverse myelitis (inflammation of the spinal cord).

Optic neuritis tends to occur suddenly and causes eye pain and varying degrees of vision loss. In most cases, only one eye is affected. Some people develop optic neuritis in both eyes at the same time.^[4]^[5]

Transverse myelitis develops over hours or days. It may cause pain in the spine or limbs, mild to severe paralysis of the limbs, abnormal sensations in the legs, and loss of bowel or bladder control. Depending on which part of the spinal cord is involved, breathing problems may be present. Some people also have muscle spasms in the upper body or limbs. Transverse myelitis often eventually causes full paralysis of the legs, requiring the use of a wheelchair.^[1]^[4]

Neuromyelitis optica can also affect the brainstem (the part of the brain connected to the spinal cord). This can lead to severe nausea, vomiting and/or hiccups.^[1]^[5]

Most people with neuromyelitis optica have episodes or "attacks" of symptoms months or years apart (the relapsing form), while others have a single episode lasting several months (the monophasic form).^[3]^[5]

Last updated: 11/7/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Autoimmune antibody positivity		0030057
Functional abnormality of the bladder		0000009
Myelitis	Inflammation of spinal cord	0012486
Neuronal loss in central nervous system	Loss of brain cells	0002529
Ocular pain	Eye pain	0200026
Optic neuritis		0100653
Paraplegia	Leg paralysis	0010550
Peripheral demyelination		0011096
Sensory impairment		0003474
Visual loss	Loss of vision Vision loss [ more ]	0000572
30%-79% of people have these symptoms
Abnormality of brain morphology	Abnormal shape of brain Abnormality of the brain [ more ]	0012443
5%-29% of people have these symptoms
CSF pleocytosis		0012229
Nausea		0002018
Recurrent singultus	Recurrent hiccup	0100247
Respiratory failure		0002878

Showing of 15 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 12/1/2018

Do you have updated information on this disease? We want to hear from you.

Cause Cause

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.^[1]^[2]

In rare cases, more then one person in a family may have neuromyelitis optica.^[4] Additionally, many people with neuromyelitis optica have another autoimmune disease, or have family members with an autoimmune disease.^[3]^[4] 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.^[6]

Last updated: 11/6/2017

Inheritance Inheritance

Neuromyelitis optica usually is not inherited.^[3] 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.^[4] 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.^[3]

Last updated: 11/7/2017

Diagnosis Diagnosis

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.^[4]^[5] Additionally, other more common conditions (particularly multiple sclerosis) must be ruled out.^[5]

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).^[5]

Laboratory tests may include:^[5]

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: 11/7/2017

Treatment Treatment

There is no cure for neuromyelitis optica, but there are therapies aimed at treating episodes in progress, reducing symptoms, and preventing relapses.^[1]

Sudden episodes and relapses are usually treated with intravenous corticosteroids. If this does not relieve symptoms, plasma exchange may be effective.^[4]^[5] 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.^[4]

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.^[5]

People with severe, permanent symptoms may benefit from collaborating with occupational therapists, physical therapists, and social services professionals to address their rehabilitation needs.^[1]

Last updated: 11/7/2017

Prognosis Prognosis

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.^[5]

For people with the relapsing form (90% of those with the disease), each episode causes more damage to the nervous system.^[5] Often this eventually leads to permanent muscle weakness, paralysis, and/or vision loss within 5 years.^[1]^[3]^[5] People with the monophasic form (those who experience one episode) can also have lasting impairment of muscle function and vision.^[3]

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.^[5]

Last updated: 11/6/2017

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include MS; idiopathic, viral, paraneoplastic and connective tissue disease (e.g. SLE)-associated myelitis; ischemic and connective tissue associated optic neuropathies (see these terms). Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Neuromyelitis optica. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Guthy-Jackson Charitable Foundation
10525 Vista Sorrento Pkwy, #210
San Diego, CA 92121
Telephone: 858-638-7638
Fax: 858-638-7698
E-mail: info@guthyjacksonfoundation.org
Website: 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/
Transverse Myelitis Association
1787 Sutter Parkway
Powell, OH 43065-8806
Toll-free: 1-855-380-3330
Telephone: 614-317-4884
E-mail: info@myelitis.org
Website: http://www.myelitis.org

Social Networking Websites

Visit the following Facebook groups or pages related to Neuromyelitis optica:
MOG Antibody Support And Info

Organizations Providing General Support

American Autoimmune Related Diseases Association (AARDA)
22100 Gratiot Avenue
Eastpointe, MI 48021
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: aarda@aarda.org
Website: https://www.aarda.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Neuromyelitis optica. This website is maintained by the National Library of Medicine.
The Mayo Clinic Web site provides further information on Neuromyelitis optica.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

The Merck Manual for health care professionals provides information on Neuromyelitis optica.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Neuromyelitis optica. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Trebst C. et al. Update on the diagnosis and treatment of neuromyelitis optica: Recommendations of the Neuromyelitis Optica Study Group (NEMOS). Journal of Neurology. 2014; 261(1): 1–16.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

My aunt has neuromyelitis optica and this disease is very aggressive. We need help getting her therapy treatment that is going to help her more. See answer
Is neuromyelitis optica fatal? And if so, what are the percentages of people who succumb to this disease? See answer
I know my neuromyelitis optica is not contagious via personal contact, but if had the condition while pregnant could my daughter have it also? See answer

Have a question? Contact a GARD Information Specialist.

References References

NINDS Neuromyelitis Optica Information Page. National Institute of Neurological Disorders and Stroke (NINDS). https://www.ninds.nih.gov/Disorders/All-Disorders/Neuromyelitis-Optica-Information-Page. Accessed 11/6/2017.
About NMO. The Guthy-Jackson Charitable Foundation. https://guthyjacksonfoundation.org/neuromyelitis-optica-nmo/. Accessed 11/6/2017.
Neuromyelitis optica. Genetics Home Reference. March, 2015; https://ghr.nlm.nih.gov/condition/neuromyelitis-optica.
Weinshenker B. Neuromyelitis Optica. NORD. 2015; https://rarediseases.org/rare-diseases/neuromyelitis-optica/.
Glisson CC. Neuromyelitis optica spectrum disorders. UpToDate. Waltham, MA: UpToDate; August 22, 2017; https://www.uptodate.com/contents/neuromyelitis-optica-spectrum-disorders.
Hazin H, Khan F, Bhatti MT. Neuromyeliits optica: Current concepts and prospects for future management. Current opinion in opthalmology. November 2009; 20(6):https://www.ncbi.nlm.nih.gov/pubmed/19696670.