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Disease Profile
Neuromyelitis optica spectrum disorder
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
All ages
ICD-10
G36.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Devic syndrome; NMO; Devic's neuromyelitis optica;
Categories
Eye diseases; Nervous System Diseases
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
Symptoms
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.
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.
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 |
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 |
Cause
Diagnosis
Treatment
Specialists involved in the care of someone with a neuromyelitis optica spectrum disorder may include:
Neurologist Ophthalmologist Physical therapist Occupational therapist
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
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.
|
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: [email protected]
Website: https://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: [email protected]
Website: https://www.aarda.org/
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.
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/.
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