Neuromyelitis Optica

Title

Other Names:

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

Categories:

Eye diseases; Nervous System Diseases

Summary Summary

Neuromyelitis optica, is an autoimmune condition that affects the spinal cord and optic nerves (the nerves that carry information regarding sight from the eye). In neuromyelitis optica, the body's immune system attacks and destroys myelin, a fatty substance that surrounds nerves and helps nerve signals move from cell to cell.^[1] Signs and symptoms worsen with time and include optic neuritis; transverse myelitis; pain in spine and limbs; and bladder and bowel dysfunction. The exact cause of neuromyelitis optica is unknown. Most affected people do not have other family members with the condition.^[2] Currently there is no cure for neuromyelitis optica, but there are therapies to treat an attack while it is happening, to reduce symptoms, and to prevent relapses.^[1]

Last updated: 12/5/2014

Symptoms Symptoms

The most common signs and symptoms of neuromyelitis optica are optic neuritis and/or transverse myelitis. Optic neuritis (inflammation of the optic nerve) can cause pain and sudden, reduced vision in the affected eye. In most cases, only one eye is affected; however, some people may develop optic neuritis in both eyes at the same time.^[2]^[3]

Signs and symptoms of transverse myelitis (inflammation of the spinal cord) include pain in the spine or limbs (arms and legs); mild to severe paralysis of the legs; paresthesias (abnormal sensations such as burning, tickling, pricking, or tingling) in the legs; and loss of bowel or bladder control. Depending on which section of the spinal cord is affected, breathing problems may be present, as well. Some affected people may also experience muscle spasms, a stiff neck, a general feeling of discomfort, headache, fever, and loss of appetite. Progression of transverse myelitis leads to full paralysis of the legs, requiring the patient to use a wheelchair.^[2]^[4]

In rare cases, neuromyelitis optica can also affect the brainstem (the part of the brain connected to the spinal cord). This can lead to symptoms such as uncontrollable vomiting and hiccups.^[3]^[4]

Last updated: 12/5/2014

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Dysautonomia	Very frequent (present in 80%-99% of cases)
Sensory impairment	Very frequent (present in 80%-99% of cases)
Abnormal leukocyte count	Frequent (present in 30%-79% of cases)
Abnormality of the urinary system physiology	Frequent (present in 30%-79% of cases)
Autoimmune antibody positivity	Frequent (present in 30%-79% of cases)
Hyperproteinemia	Frequent (present in 30%-79% of cases)
Spinal cord lesion	Frequent (present in 30%-79% of cases)
Tetraparesis	Frequent (present in 30%-79% of cases)
Abnormality of the cerebrospinal fluid	Occasional (present in 5%-29% of cases)
Anxiety	Occasional (present in 5%-29% of cases)
Cognitive impairment	Occasional (present in 5%-29% of cases)
Hyperkalemia	Occasional (present in 5%-29% of cases)
Hyperthyroidism	Occasional (present in 5%-29% of cases)
Hypochloremia	Occasional (present in 5%-29% of cases)
Increased intracranial pressure	Occasional (present in 5%-29% of cases)
Nausea and vomiting	Occasional (present in 5%-29% of cases)
Seizures	Occasional (present in 5%-29% of cases)
Visual loss	Occasional (present in 5%-29% of cases)

Last updated: 10/1/2017

Cause Cause

In most cases, the exact cause of neuromyelitis optica is unknown. However, studies of affected nerves have improved our understanding of the disease process. In neuromyelitis optica, certain immune proteins (autoantibodies) attach themselves to specialized proteins in the spinal cord and optical nerve called "water channel proteins." The autoantibodies signal immune cells to attack, resulting in damage to myelin and the breakdown of healthy nerves and tissues.^[5]

There is a strong link between neuromyelitis optica and a personal or family history of other autoimmune conditions. In fact, 50% of people with neuromyelitis optica are also affected by other autoimmune conditions and/or have family members with an autoimmune condition.^[2]

There have been a few cases of neuromyelitis optica occurring in association with certain infectious conditions (e.g., syphilis, HIV, chlamydia, varicella, cytomegalovirus, and Epstein Barr virus). The nature of this link isn't clear. It is possible that certain infections may trigger neuromyelitis optica in people who are predisposed to the condition.^[5]

Last updated: 12/5/2014

Inheritance Inheritance

Neuromyelitis optica is not thought to be inherited in most cases, and only 3% of affected people have a family member with the condition.^[2]

Last updated: 12/5/2014

Diagnosis Diagnosis

A diagnosis of neuromyelitis optica is based on a physical examination; identification of characteristic signs and symptoms; and a variety of specialized imaging and laboratory tests. For example, magnetic resonance imaging (MRI scan) or computed tomography (CT scan) of the brain and spinal cord and optical coherence tomography (specialized pictures of the retina) can be used to locate areas of nerve damage. Special blood tests that are used to detect autoimmune conditions and/or examination of the cerebrospinal fluid may also be necessary to confirm a diagnosis.^[3]^[2]

Last updated: 12/5/2014

Treatment Treatment

There is no cure for neuromyelitis optica, but there are therapies to treat an attack while it is happening, to reduce symptoms, and to prevent relapses. Doctors usually treat an initial attack of neuromyelitis optica with a combination of corticosteroid drugs to stop the attack and immunosuppressive drugs to prevent additional attacks. If frequent relapses occur, some people may need to continue a low dose of steroids for longer periods. Plasma exchange (plasmapheresis) is a technique that separates antibodies out of the blood stream and is used with people who do not respond to corticosteroid therapy. Pain, stiffness, muscle spasms, and bladder and bowel control problems can be managed with the appropriate medications and therapies. People with neuromyelitis optica may require the combined efforts of occupational therapists, physical therapists, and social services professionals to address their complex rehabilitation needs.^[4]

The Transverse Myelitis Association provides additional information on the treatment options available for neuromyelitis optica. http://myelitis.org/symptoms-conditions/neuromyelitis-optica/acute-treatments-nmo/

Last updated: 12/5/2014

Prognosis Prognosis

The onset of neuromyelitis optica varies from childhood to adulthood, with two peaks: one in childhood and the other in adults in their 40s. Most people with neuromyelitis optica have a relapsing form of the disease and experience clusters of attacks months or years apart, followed by partial recovery during periods of remission (a decrease or disappearance of symptoms). Disability is cumulative, the result of each attack damaging new areas of myelin. In rare cases, neuromyelitis optica is characterized by a single, severe attack extending over a month or two, with little recurrence after the initial onset of symptoms. Some people are severely affected by neuromyelitis optica and can lose vision in both eyes and the use of their arms and legs. Most people 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 neuromyelitis optica is most often caused by respiratory (breathing) complications from myelitis attacks.^[4]

Last updated: 12/5/2014

Do you have updated information on this condition? Let us know.

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 studying or have studied 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/
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

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? Send us your suggestions.

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.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

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). 2007; https://www.ninds.nih.gov/Disorders/All-Disorders/Neuromyelitis-Optica-Information-Page.
Weinshenker B. Neuromyelitis Optica. NORD. 2015; https://rarediseases.org/rare-diseases/neuromyelitis-optica/.
Christopher C Glisson, DO, MS. Neuromyelitis optica (NMO) and NMO spectrum disorders. UpToDate. November 2014;
NINDS Neuromyelitis Optica Information Page. National Institute of Neurological Disorders and Stroke. June 2014; http://www.ninds.nih.gov/disorders/neuromyelitis_optica/neuromyelitis_optica.htm.
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.