Neuromyelitis optica spectrum disorder

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Other Names:

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

Categories:

Eye diseases; Nervous System Diseases

Summary Summary

Neuromyelitis optica spectrum disorders (NMOSD) affect the spinal cord and optic nerves (nerves that carry visual messages to and from the brain). Symptoms include pain, weakness, bowel and bladder problems, and temporary vision loss. NMOSD usually occurs in adulthood, but symptoms may start at any age. Some people have a single attack of symptoms lasting months, but in most people the symptoms come and go over time. People with NMOSD may develop permanent muscle weakness and vision loss. The cause of NMOSD is unknown. It occurs when the body's immune system mistakenly attacks healthy cells in the spinal cord and eyes. It can be diagnosed by a clinical exam, MRI looking for specific signs, and blood tests looking for certain antibodies. Treatment is focused on managing the symptoms and preventing relapses.^[1]^[2]^[3]^[4]

Last updated: 6/18/2020

Symptoms Symptoms

The following list includes the most common signs and symptoms in people with neuromyelitis optica spectrum disorders (NMOSD). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Signs and symptoms may include:^[1]^[2]

Inflammation of the optic nerve (optic neuritis)
Temporary vision loss
Inflammation of the spinal cord (acute transverse myelitis)
Pain
Abnormal sensations
Weakness in the arms and legs
Bladder and bowel control problems
Episodes of nausea and vomiting

Symptoms typically begin in adulthood but can start at any age. Optic neuritis tends to occur suddenly and causes eye pain and varying degrees of vision loss. Transverse myelitis develops over hours or days. Most people with NMOSD have episodes or "attacks" of symptoms months or years apart (the relapsing form), while others have a single episode lasting several months. NMOSD may cause permanent disability.

Last updated: 6/18/2020

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.

Showing of 15 |

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 |

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Last updated: 1/1/2021

Cause Cause

The cause of neuromyelitis optica spectrum disorders (NMOSD) is unknown. It is considered an autoimmune disease in which the immune system mistakenly attacks cells in the spinal cord and optic nerves. Many people who develop NMOSD have another autoimmune disease. It is also possible that genetic factors may be involved.^[1]^[3]

Last updated: 6/18/2020

Diagnosis Diagnosis

A diagnosis of neuromyelitis optica spectrum disorder (NMOSD) is based upon a clinical examination looking for the presence of characteristic symptoms and imaging studies (MRI) of the brain, spinal cord, and eyes.^[4] Additional testing may include a blood test looking for a specific type of antibody and a spinal tap to collect a small amount of fluid that surrounds the brain and spinal cord to look for white blood cells.^[3]

Last updated: 6/18/2020

Treatment Treatment

Treatment for neuromyelitis optica spectrum disorders is focused on managing the symptoms and preventing relapses. High-dose steroids, medications that suppress the immune system, and pain medications may be used. Plasma exchange, a procedure for removing excess proteins from the blood, may also be used for severe symptoms.^[2]^[3]

Specialists involved in the care of someone with a neuromyelitis optica spectrum disorder may include:

Neurologist
Ophthalmologist
Physical therapist
Occupational therapist

Last updated: 6/18/2020

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Satralizumab (Brand name: Enspryng) - Manufactured by Genentech
FDA-approved indication: Enspryng is indicated for the treatment of neuromyelitis optica spectrum disorder (NMOSD) in adult patients who are anti-aquaporin-4 (AQP4) antibody positive.
National Library of Medicine Drug Information Portal
Eculizumab (Brand name: Soliris) - Manufactured by Alexion Pharmaceuticals, Inc
FDA-approved indication: June 2019, eculizumab (Soliris) was approved for the treatment of neuromyelitis optica spectrum disorder (NMOSD) in adult patients who are anti-aquaporin-4 (AQP4) antibody positive.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Inebilizumab (Brand name: Uplizna) - Manufactured by Viela Bio
FDA-approved indication: Uplizna is indicated for the treatment of neuromyelitis optica spectrum disorder (NMOSD) in adult patients who are anti-aquaporin-4 (AQP4) antibody positive.
National Library of Medicine Drug Information Portal

Statistics Statistics

It has been estimated that between 0.5 - 4.4/100,000 people has a neuromyelitis optica spectrum disorder. It has been reported to be more prevalent in Asians and Africans.^[1]^[2]^[3]

Last updated: 6/18/2020

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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 spectrum disorder. 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.

Patient Registry

The Autoimmune Registry supports research for Neuromyelitis optica spectrum disorder by collecting information about patients with this and other autoimmune diseases. You can join the registry to share your information with researchers and receive updates about participating in new research studies. Learn more about registries.

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/
Siegel Rare Neuroimmune Association (SRNA)
1787 Sutter Parkway
Powell, OH 43065-8806
Toll-free: 1-855-380-3330 (Helpline)
Telephone: +1-614-317-4884
E-mail: https://www.surveymonkey.com/r/MyelitisHelpLine
Website: https://wearesrna.org/
(Formerly the Transverse Myelitis Foundation)

Social Networking Websites

Visit the following Facebook groups related to Neuromyelitis optica spectrum disorder:
MOG Antibody Support And Info

Organizations Providing General Support

American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: aarda@aarda.org
Website: https://www.aarda.org/

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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

The Mayo Clinic Web site provides further information on Neuromyelitis optica spectrum disorder.
Genetics Home Reference (GHR) contains information on Neuromyelitis optica spectrum disorder. This website is maintained by the National Library of Medicine.
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 spectrum disorder.
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 spectrum disorder. Click on the link to view a sample search on this topic.

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References References

Huda S, Whittm D, Bhojak M, Chamberlain J, Noonan C, Jacob A. Neuromyelitis optica spectrum disorders. Clin Med (Lond). 2019; 19(2):169-176. https://pubmed.ncbi.nlm.nih.gov/30872305.
Wu Y, Zhong L, Geng J. Neuromyelitis optica spectrum disorder: Pathogenesis, treatment, and experimental models. Mult Scler Relat Disord. 2019; 27:412-418. https://pubmed.ncbi.nlm.nih.gov/30530071.
Bruscolini A, Saccetti M, La Cava M, et al. Diagnosis and management of neuromyelitis optica spectrum disorders - An update. Autoimmun Rev. 2018; 17(3):195-200. https://pubmed.ncbi.nlm.nih.gov/29339316.
Wingerchuk DM, Banwell B, Bennett JL, et al. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology. 2015; 85(2):177-189. https://pubmed.ncbi.nlm.nih.gov/26092914.
Weinshenker B. Neuromyelitis Optica Spectrum Disorder. NORD. Updated 2018; https://rarediseases.org/rare-diseases/neuromyelitis-optica/.