Living with Moyamoya disease
A condition in which brain blood vessels narrow over time, which can cause stroke-like episodes, seizures, and headaches.
Understanding Moyamoya disease
As the vessels narrow, blood flow to the brain drops, and tiny fragile vessels form to make up for it. On a scan they look like a puff of smoke, which is what moyamoya means in Japanese. It commonly begins around age 5 or in a person's thirties or forties. Reduced blood flow can cause temporary stroke-like episodes, strokes, and seizures. Fragile vessels can bulge or bleed. Some people also have headaches, jerking movements, or a decline in thinking.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Narrowed brain blood vessels
- Seizures
- Stroke-like episodes and strokes
- Intellectual disability
- Widened fluid spaces in the brain (ventriculomegaly)
- Small clusters of widened blood vessels (telangiectasia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in DIAPH1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Moyamoya Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. GARD lists the DIAPH1 gene and several inheritance patterns: autosomal dominant, autosomal recessive, and X-linked.
Also known as: idiopathic moyamoya disease; moyamoya syndrome; progressive intracranial arterial occlusion
Patient organizations
- Moyamoya FoundationMoyamoya disease · United States
You are more than your diagnosis
Perspectives from people navigating life with Moyamoya disease.
Explore research for Moyamoya disease
Explore actively recruiting Moyamoya disease studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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