Overview

Moyamoya disease is a rare, progressive blood vessel (vascular) disorder in which the carotid artery in the skull becomes blocked or narrowed, reducing blood flow to your brain. Tiny blood vessels then open up at the base of the brain in an attempt to supply the brain with blood. The word "moyamoya" means "puff of smoke" in Japanese, a term describing the appearance of this cluster of tiny blood vessels.

These tiny clusters of blood vessels cannot supply the necessary blood and oxygen to the brain, resulting in temporary or permanent brain injury.

The condition may cause a ministroke (transient ischemic attack, or TIA), stroke, bulge or ballooning in a blood vessel (aneurysm) or bleeding in the brain. It can also affect how well your brain functions and cause cognitive and developmental delays or disability.

Moyamoya disease most commonly affects children, but adults may have the condition. Moyamoya disease is found all over the world, but it's more common in East Asian countries, especially Korea, Japan and China and in people of East Asian descent.

Moyamoya disease care at Mayo Clinic

Symptoms

Moyamoya disease may occur at any age, though symptoms most commonly occur between 5 and 10 years of age in children and between 30 and 50 years of age in adults.

The first symptom of moyamoya disease is usually stroke or recurrent transient ischemic attacks (TIAs), especially in children. Adults may also experience these symptoms but more often experience bleeding in the brain (hemorrhagic stroke) from abnormal brain vessels.

Accompanying signs and symptoms of moyamoya disease related to reduced blood flow to the brain include:

  • Headache
  • Seizures
  • Weakness, numbness or paralysis in your face, arm or leg, typically on one side of your body
  • Visual disturbances
  • Difficulties with speaking or understanding others (aphasia)
  • Developmental delays
  • Involuntary movements
  • Cognitive decline

These symptoms can be triggered by exercise, crying, coughing, straining or fever.

When to see a doctor

Seek immediate medical attention if you notice any signs or symptoms of a stroke or TIA, even if they seem to fluctuate or disappear.

Think "FAST" and do the following:

  • Face. Ask the person to smile. Does one side of the face droop?
  • Arms. Ask the person to raise both arms. Does one arm drift downward? Or is one arm unable to raise up?
  • Speech. Ask the person to repeat a simple phrase. Is his or her speech slurred or strange?
  • Time. If you observe any of these signs, call 911 immediately.

Call 911 or your local emergency number right away. Don't wait to see if symptoms go away. Every minute counts. The longer a stroke goes untreated, the greater the potential for brain damage and disability.

If you're with someone you suspect is having a stroke, watch the person carefully while waiting for emergency assistance.

Causes

The exact cause of moyamoya disease is unknown. Moyamoya disease is more common in Japan, Korea and China, but it also occurs in other parts of the world.

Researchers believe the higher concentration of moyamoya disease in these Asian countries strongly suggests the disease may have genetic causes.

Moyamoya is also associated with certain conditions, such as Down syndrome, sickle cell anemia, neurofibromatosis type 1 and hyperthyroidism.

Risk factors

Though the cause of moyamoya disease is unknown, certain factors may increase your risk of having the condition, including:

  • Being of Asian descent. Moyamoya disease is found all over the world, but it's more common in East Asian countries, especially Korea, Japan and China. This may possibly be due to certain genetic factors in those populations. Higher rates of moyamoya disease have been documented among Asians living in western countries.
  • Having a family history of moyamoya disease. If you have a family member with moyamoya disease, your risk of having the condition is 30 to 40 times higher than the general population — a factor that strongly suggests a genetic component to the disease and may justify screening of family members.
  • Having a certain medical condition. Moyamoya disease sometimes occurs in association with another disorder, including neurofibromatosis type 1, sickle cell anemia and Down syndrome, among others.
  • Being female. Females have a slightly higher incidence of moyamoya disease.
  • Being young. Though adults can have moyamoya disease, children younger than 15 years old are most commonly affected.

Complications

Most complications from moyamoya disease are associated with the effects of stroke, such as:

  • Vision problems. As a result of stroke, some people with moyamoya disease experience visual disturbances.
  • Weakness (hemiparesis).
  • Language disturbance (aphasia).
  • Movement disorders. Though rare, some people with moyamoya disease experience involuntary movement of certain muscles.
  • Learning or developmental issues. Following a stroke, a child may have problems with mental processing, which can affect schoolwork as well as cause emotional difficulties and low self-esteem. Adults may experience memory decline as well as challenges with other areas of cognitive function.
  • Seizures.

Moyamoya disease care at Mayo Clinic

June 09, 2017
References
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