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Disease Profile
Opsoclonus-myoclonus syndrome
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.
Unknown
Age of onset
Infancy
ICD-10
G25.3
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)
Opsoclonus myoclonus syndrome; OMS; Kinsbourne syndrome;
Categories
Eye diseases; Nervous System Diseases
Summary
Opsoclonus-myoclonus
Symptoms
- Unsteady, trembling gait (manner of walking)
- Sudden, brief, shock-like muscle spasms (myoclonus). While it occurs most when trying to move and worsens with agitation or stimulation, it can also be present at rest. Myoclonus can make a person appear nervous or shaky, or have jerking movements. The face, eyelids, limbs, fingers, head and trunk may be involved. When the illness is at its worst, sitting or standing is difficult or impossible.
- Irregular, rapid eye movements (opsoclonus)
Other symptoms may include difficulty speaking or inability to speak, difficulty eating or sleeping, excessive drooling, lack of coordination, rage attacks, head tilt, a decrease in muscle tone, and/or general feeling of discomfort or illness.[2][3]
Children may appear to be nervous, irritable, or lethargic while adults may have mental clouding (
Cause
Diagnosis
The diagnosis is based on the presence of any 3 out of the 4 following criteria:
- Rare type of
cancer that affects the nervetissue (neuroblastoma) - Uncontrolled eye movement (opsoclonus)
- A movement disorder with sudden muscle contractions (myoclonus) and/or lack of coordination (
ataxia ) - Behavioral and/or sleep disturbance
In adults with OMS, a blood exam may show Hu anti-neuronal nuclear antibodies (anti-Hu) but not in children. The most efficient methods for detecting a neuroblastoma (which is present in many affected people) are MRI with contrast and helical (or spiral) CT scanning.[4]
Treatment
- Surgery,
chemotherapy , and/or radiation: When there is atumor present, treatment such as surgery for tumor removal, chemotherapy, or radiation may be required.[2] In children, the removal of the neuroblastoma does not always improve neurologic symptoms. Some adults with paraneoplastic OMA do not have more neurologic symptoms with the removal pf the neuroblastoma or after its treatment. Corticosteroids or ACTH (adrenocorticotrophichormone ), human intravenous immunoglobulins (IVIG), or immunosuppressive agents such as immuran, cyclophosphamide, mycophenolate mofetil, and rituximab. In many cases, a combination of medications leads to the best result.[2][3][5] Adults may be less likely to respond to immunological treatment compared with children.[5]- Trazodone: Used to treat sleep problems and associated rage attacks.
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.
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Conditions with similar signs and symptoms from Orphanet
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Differential diagnosis includes acute inflammatory cerebellar ataxia that is differentiated from OMS by the type of eye movement (nystagmus), the absence of irritability, and the usually rapid recovery without treatment.
Visit the Orphanet disease page for more information.
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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
-
Dancing Eye Syndrome Support Trust
78 Quantock Road
Worthing
West Sussex
BN13 2HQ
United Kingdom
Telephone: 01925 654654
E-mail: [email protected]
Website: https://www.dancingeyes.org.uk -
International Parkinson and Movement Disorder Society
555 East Wells Street, Suite 1100
Milwaukee, WI 53202-3823
Telephone: +1-414-276-2145
Fax: +1-414-276-3349
E-mail: [email protected]
Website: https://www.movementdisorders.org/ -
OMSLife Foundation
P.O. BOX 2899
Cypress, TX 77410
E-mail: [email protected]
Website: https://www.omslifefoundation.org
Contact form: https://www.omslifefoundation.org/?q=en/contacts
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 National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
- 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 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 Opsoclonus-myoclonus syndrome. Click on the link to view a sample search on this topic.
References
- Pranzatelli MR. Opsoclonus-Myoclonus Syndrome. National Organization for Rare Disorders (NORD). 2009; https://rarediseases.org/rare-diseases/opsoclonus-myoclonus-syndrome/.
- NINDS Opsoclonus Myoclonus Information Page. National Institute of Neurological Disorders and Stroke (NINDS). https://www.ninds.nih.gov/Disorders/All-Disorders/Opsoclonus-Myoclonus-Information-Page.
- Pranzatelli MR. What is the Opsoclonus-Myoclonus Syndrome?. Opsoclonus-Myoclonus U.S.A. And International web site. https://www.omsusa.org/pranzatelli-Brochure1.htm.
- Opsoclonus-myoclonus syndrome. Orphanet. November, 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1183.
- Dalmau J and Rosenfeld MR. Opsoclonus myoclonus ataxia. UpToDate. May 3 2016; https://www.uptodate.com/contents/opsoclonus-myoclonus-ataxia.
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