Rare Hematology News

Disease Profile

Neuromyelitis optica spectrum disorder

Prevalence
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

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

All ages

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 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]

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.

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 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

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]

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]

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

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.

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

    Social Networking Websites

      Organizations Providing General Support

        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

            1. 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.
            2. 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.
            3. 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.
            4. 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.
            5. Weinshenker B. Neuromyelitis Optica Spectrum Disorder. NORD. Updated 2018; https://rarediseases.org/rare-diseases/neuromyelitis-optica/.

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