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Disease Profile
Moyamoya disease
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 / 1 000 000
Age of onset
All ages
ICD-10
I67.5
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)
Moyamoya syndrome; Spontaneous occlusion of the circle of Willis; MYMY
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Moyamoya disease is a rare, progressive, blood vessel disease caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name "moyamoya" means "puff of smoke" in Japanese and describes the look of the tangled vessels that form to compensate for the blockage. This condition usually affects children, but can affect adults. Affected people are at increased risk for blood clots, strokes, and transient ischemic attacks (TIAs) which are frequently accompanied by
Moyamoya
Symptoms
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 | ||
Telangiectasia | 0001009 | |
30%-79% of people have these symptoms | ||
Abnormality of the cerebral vasculature |
Abnormality of the cerebral blood vessels
|
0100659 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
0001250 | ||
Ventriculomegaly | 0002119 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Carotid artery occlusion |
Obstructed carotid artery
|
0012474 |
Inflammatory arteriopathy | 0005291 |
Cause
Other people develop moyamoya
Treatment
No medication can stop the narrowing of the brain's blood vessels, or the development of the thin, fragile vessels that characterize the disease.[5] However, medications are used to treat many of the symptoms of the disease, and are often an important part of the management. Medications may include aspirin (to prevent or reduce the development of small blood clots); calcium channel blockers (which may improve symptoms of headaches and reduce symptoms related to transient ischemic attacks); and anti
People interested in learning about specific treatment options for themselves or family members should speak with their health care provider.
Management Guidelines
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
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
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MMD may develop in an isolated manner but can also be associated with other diseases when it is known as MMS: typical angiographic MMDfeatures associated with other diseases, e.g. sickle cell anemia, Down syndrome, neurofibromatosis type 1 (see these terms) and many others.
Visit the Orphanet disease page for more information.
|
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 Moyamoya disease. This website is maintained by the National Library of Medicine.
- The Boston Children's Hospital website provides information on pediatric moyamoya disease. Click on Boston Children's Hospital to view this resource.
- 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.
- Stanford Moyamoya Center has a page for frequently asked questions and answers for patients and families.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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 Moyamoya disease. Click on the link to view a sample search on this topic.
Videos/Presentations
- The Boston Children's Hospital has live videos on Moyamoya disease. Click on Boston Children's Hospital to choose a video to watch.
References
- NINDS Moyamoya Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). March 2011; https://www.ninds.nih.gov/Disorders/All-Disorders/Moyamoya-Disease-Information-Page. Accessed 9/19/2011.
- Smith ER & Scott RM. Moyamoya: epidemiology, presentation, and diagnosis. Neurosurg Clin N Am. July 2010; https://www.ncbi.nlm.nih.gov/pubmed/20561502. Accessed 9/19/2011.
- Suwanwela NC. Moyamoya disease: Etiology, clinical features, and diagnosis. In: Biller J, Nordli DR. UpToDate. Waltham, MA: UpToDate; 2015; Accessed 7/27/2015.
- Josette Mancini. Moyamoya Disease. Orphanet. September, 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2573. Accessed 7/2/2014.
- Edward Smith. Moyamoya Disease. Boston Children's Hospital. 2011; https://www.childrenshospital.org/health-topics/conditions/m/moyamoya-disease. Accessed 7/2/2014.
- Moyamoya Disease Information Page. NINDS. April 16, 2014; https://www.ninds.nih.gov/Disorders/All-Disorders/Moyamoya-Disease-Information-Page. Accessed 7/1/2014.
- Moyamoya syndrome. NORD. January 20, 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/617/viewAbstract. Accessed 7/2/2014.
- Roy Sucholeiki. Moyamoya Disease. Medscape Reference. January 25, 2012; https://emedicine.medscape.com/article/1180952-overview. Accessed 7/1/2014.
- Nijasri Charnnarong Suwanwela. Moyamoya disease: Treatment and prognosis. UpToDate. Waltham, MA: UpToDate; July, 2014; Accessed 7/2/2014.
- Fernandez-Alvarez E, Pineda M, Royo C, Manzanares R. "Moya-moya' disease caused by cranial trauma. Brain Dev. 1979; 1(2):133. Accessed 7/27/2015.
- Moyamoya disease. Genetics Home Reference. April 2015; https://ghr.nlm.nih.gov/condition/moyamoya-disease. Accessed 7/27/2015.
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