Health Library Logo

Health Library

Moyamoya Disease

Overview

Moyamoya disease is a rare condition where the arteries that carry blood to the brain become narrowed or blocked. This reduces the amount of oxygen-rich blood reaching the brain. Imagine a highway to your brain getting clogged. This lack of blood flow can lead to serious problems like strokes.

In moyamoya disease, the main artery supplying blood to the brain (the carotid artery) gets blocked or constricted, limiting the blood supply. The brain tries to compensate by growing smaller, new blood vessels at the base of the brain. This is like the body building a bypass road to get blood to the brain.

This problem can cause mini-strokes (transient ischemic attacks, or TIAs) or full-blown strokes. It can also cause bleeding within the brain (hemorrhagic stroke). The abnormal formation of blood vessels in the brain can be the reason for the bleeding. The condition can also affect how well the brain works, leading to problems with thinking, learning, or development.

Moyamoya disease can happen at any age, but it's more common in children, especially those of East Asian descent (like those from Korea, Japan, and China). While the reason for this is not fully understood, genetics may play a role. Symptoms often appear in children between the ages of 5 and 10, and in adults between 30 and 50. Catching the signs early is crucial to prevent complications like strokes.

Symptoms vary depending on whether the person is a child or an adult. In children, the first signs are often mini-strokes (TIAs) or actual strokes. Adults may experience these too, but also may have bleeding within the brain (hemorrhagic strokes) due to the way the blood vessels have developed.

Common symptoms of moyamoya disease, related to the reduced blood flow, include:

  • Headaches: A common complaint.
  • Seizures: Uncontrolled electrical activity in the brain.
  • Weakness, numbness, or paralysis: Often on one side of the body.
  • Vision problems: Like blurred vision or trouble seeing.
  • Trouble speaking or understanding others (aphasia): Difficulty with communication.
  • Cognitive or developmental delays: Problems with learning or thinking.
  • Involuntary movements: Unintentional movements.

These symptoms can sometimes be triggered by things like physical exertion (exercise), stress (crying), straining (coughing or lifting something heavy), or a fever. It's important to note that these symptoms can be caused by other conditions too, so it's essential to see a doctor if you are concerned.

Symptoms

Moyamoya disease can affect people of any age, but it's most common in children between the ages of 5 and 10, and adults between 30 and 50. Catching the signs early is crucial to prevent serious problems like strokes. The symptoms of moyamoya disease differ slightly between children and adults.

In children, the first noticeable sign is often a stroke or repeated mini-strokes (transient ischemic attacks, or TIAs). Adults can also experience these, but they might also have bleeding in the brain (a hemorrhagic stroke). This bleeding happens because the blood vessels in the brain aren't developing normally in moyamoya disease.

Symptoms related to reduced blood flow in the brain can include:

  • Headaches: These can be a sign of the disease.
  • Seizures: These are sudden bursts of unusual activity in the brain.
  • Weakness, numbness, or paralysis: These problems often affect one side of the body (arm, leg, or face).
  • Vision problems: This could range from blurry vision to complete loss of sight.
  • Trouble speaking or understanding others (aphasia): Difficulty communicating.
  • Cognitive or developmental delays: These issues might be seen in children.
  • Involuntary movements: These might happen unexpectedly, especially after activity like exercise, crying, or coughing.

These symptoms can be triggered by things like physical exertion, crying, coughing, or a fever. If you notice any of these symptoms, even if they seem to come and go, seek immediate medical help. It's critical to act quickly. Think "FAST" and look for these possible signs of a stroke:

  • Face: Ask the person to smile. Does one side of their face droop?
  • Arms: Ask them to raise both arms. Does one arm drift downward or not lift at all?
  • Speech: Ask them to repeat a simple sentence. Is their speech slurred or unusual?
  • Time: If you notice any of these signs, call 911 or your local emergency number immediately. Don't wait to see if the symptoms go away. Every minute counts. The longer a stroke goes untreated, the more brain damage might occur. If you're with someone who might be having a stroke, carefully observe them while waiting for emergency help.

If you have any of these symptoms, see your doctor. Early diagnosis and treatment of moyamoya disease can help prevent a stroke and other serious complications.

When to see a doctor

Quick Action Needed for Stroke or Mini-Stroke

If you think someone is having a stroke or a mini-stroke (also called a transient ischemic attack or TIA), seek immediate medical help. Even if symptoms seem to disappear, don't wait. Every second counts. Brain damage and long-term problems increase with each minute a stroke goes untreated.

Act FAST: Use these simple steps to quickly assess if someone needs emergency care:

  • Face: Ask the person to smile. Does one side of their face droop?
  • Arms: Ask them to raise both arms. Does one arm drift down or can't it be raised?
  • Speech: Ask them to repeat a simple phrase, like "Hello, my name is..." Is their speech unclear, slurred, or strange?
  • Time: If you notice any of these signs, call 911 or your local emergency number immediately.

Don't delay. Calling emergency services right away is crucial, even if the symptoms seem to go away. Time is of the essence.

Watching and Waiting: While waiting for emergency help, carefully observe the person.

Moyamoya Disease: When to See a Doctor

If you or someone you know has symptoms that might be related to moyamoya disease, see your doctor. Moyamoya disease is a condition where the blood vessels in the brain narrow, increasing the risk of stroke. Early detection and treatment are key to preventing strokes and other serious problems.

What is Moyamoya Disease?

Scientists don't fully understand what causes moyamoya disease. It's most commonly seen in Japan, Korea, and China, but it can occur anywhere in the world. Researchers suspect a genetic link in some populations due to its high prevalence in these Asian countries.

Important Note: Sometimes, other medical conditions can cause symptoms that mimic moyamoya disease. This is called moyamoya syndrome. These conditions might have different causes and symptoms.

Examples of Conditions Related to Moyamoya Syndrome:

Moyamoya syndrome can be linked to other medical conditions, including:

  • Down syndrome: A genetic condition affecting physical and mental development.
  • Sickle cell anemia: A blood disorder causing abnormal red blood cells.
  • Neurofibromatosis type 1: A genetic disorder causing tumors to grow along nerves.
  • Hyperthyroidism: An overactive thyroid gland.

It's essential to remember that if you notice any of these symptoms, immediate medical attention is vital. Early intervention can significantly improve outcomes and prevent complications.

Causes

Moyamoya disease is a condition where the blood vessels in the brain narrow or become blocked. The exact reason why this happens isn't fully understood. While it's seen in people around the world, it's more common in Japan, Korea, and China. This higher rate in these Asian countries suggests that genetics might play a role in some cases.

Sometimes, other conditions can cause changes in the blood vessels that look similar to moyamoya disease. These changes might have different causes and symptoms. This similar-looking condition is called moyamoya syndrome. Moyamoya syndrome can be linked to certain medical conditions, such as Down syndrome, sickle cell anemia, neurofibromatosis type 1, and an overactive thyroid (hyperthyroidism). These conditions can affect the blood vessels in ways that mimic moyamoya disease. It's important to note that these conditions don't always cause moyamoya disease, but they can sometimes be associated with similar symptoms and vascular changes.

Risk factors

Moyamoya disease, a condition affecting blood vessels in the brain, has an unknown cause. However, some factors might make you more likely to get it.

  • Family history: If someone in your family has moyamoya disease, you're significantly more likely to develop it. This is a strong indication that genes play a role. In fact, your risk is 30 to 40 times higher than the average person's.

  • Ethnicity: Moyamoya disease is found worldwide, but it's more common in East Asian countries like Korea, Japan, and China. Researchers think this might be due to specific genetic factors common in these populations. This higher rate is also seen in Asian people living in other parts of the world.

  • Other medical conditions: Moyamoya disease sometimes appears alongside other medical problems. For example, it can occur with conditions like neurofibromatosis type 1, sickle cell disease, and Down syndrome.

  • Gender: Women are slightly more likely to develop moyamoya disease than men.

  • Age: While adults can have moyamoya disease, it's most often diagnosed in children under 15.

Complications

Moyamoya disease often leads to problems because of the strokes it causes. These problems can include seizures, where a person has sudden uncontrolled movements or sensations. Paralysis means a loss of movement in part or all of the body. Vision problems can range from blurry vision to complete loss of sight. Beyond these, moyamoya can also cause difficulties with speech, making it hard to communicate. There can also be issues with movement, like tremors or stiffness. In children, moyamoya can sometimes cause delays in reaching developmental milestones, such as learning to talk or walk. This disease can lead to significant and lasting harm to the brain.

Diagnosis

Moyamoya Disease: Diagnosis, Treatment, and Prognosis

Moyamoya disease is a condition affecting the blood vessels in the brain. A neurologist specializing in this condition typically diagnoses it. To do so, they will review the patient's symptoms, family medical history, and conduct a physical exam. Several tests are usually needed to confirm the diagnosis and rule out other potential causes.

Diagnostic Tests:

  • Magnetic Resonance Imaging (MRI): This powerful test uses magnets and radio waves to create detailed images of the brain. A special type of MRI, called a magnetic resonance angiogram (MRA), uses a dye to highlight the blood vessels, showing blood flow and circulation. A perfusion MRI, if available, measures the blood flow through the vessels, helping determine the extent of reduced blood supply.

  • Computed Tomography (CT) Scan: A CT scan uses X-rays to create detailed images of the brain. A CT angiogram, similar to an MRA, uses dye to highlight blood vessels. However, CT scans may not detect early stages of moyamoya disease, but can show problems with the blood vessels later on.

  • Cerebral Angiogram: This test involves inserting a thin tube (catheter) into a blood vessel in the groin and guiding it to the brain. Dye is injected through the catheter to make the blood vessels visible on X-rays. This allows doctors to see the shape and condition of the brain's blood vessels.

  • Positron Emission Tomography (PET) Scan or Single-Photon Emission Computed Tomography (SPECT): These tests use radioactive materials to visualize brain activity and blood flow to different brain regions. This can help pinpoint areas of reduced blood supply.

  • Electroencephalogram (EEG): This test measures electrical activity in the brain using electrodes placed on the scalp. EEG results in children with moyamoya disease may sometimes be different from normal.

  • Transcranial Doppler Ultrasound: This test uses sound waves to create images of the head and neck, helping evaluate blood flow in the neck's blood vessels.

Treatment for Moyamoya Disease:

Doctors evaluate the patient's condition to determine the best treatment plan. Moyamoya disease isn't curable, but treatments can prevent strokes and improve brain blood flow. This reduces symptoms and the risk of complications, including strokes (where blood flow to the brain is blocked), brain bleeds, and even death.

The success of treatment depends on several factors:

  • Time of diagnosis: Early diagnosis is better.
  • Extent of brain damage: The more damage that has occurred before treatment, the more challenging it may be to treat.
  • Treatment received: Getting treatment is crucial.
  • Age of the patient: Age can influence treatment decisions.

Treatment Options:

  • Medication: Medications like blood thinners (like aspirin) may be prescribed to prevent strokes, especially if the person has mild or no symptoms. Anti-seizure medications may also be used if seizures occur.

  • Revascularization Surgery: This is a surgical procedure to improve blood flow to the brain. Two main types of revascularization procedures are used:

    • Direct Revascularization (Superficial Temporal Artery-Middle Cerebral Artery Bypass): Surgeons connect a blood vessel from the scalp (superficial temporal artery) to a brain artery (middle cerebral artery) to increase blood flow directly. This is often the preferred method for adults, but can be more challenging in children due to the size of the vessels.
    • Indirect Revascularization (EDAS or EMS): This approach aims to gradually increase blood flow. The surgeon creates new pathways for blood to reach the brain. Methods like encephaloduroarteriosynangiosis (EDAS) or encephalomyosynangiosis (EMS), or a combination, are used. In EDAS, a scalp artery is laid on the brain surface, and in EMS, a temple muscle is used to help hold the artery in place, allowing blood vessels to grow into the brain over time. These are often combined with direct revascularization in adults for optimal results.
  • Aneurysm Surgery: If a brain aneurysm (a bulge in a blood vessel) develops, surgery may be needed to prevent or treat it.

Post-Treatment Support:

To address any physical or mental issues from strokes (or potential future strokes), doctors may recommend:

  • Psychiatric or Therapy Evaluation: A psychiatrist can identify and monitor cognitive problems (thinking and reasoning skills). Cognitive behavioral therapy can help manage emotional issues related to the disease, such as fears about future strokes.
  • Physical and Occupational Therapy: These therapies help regain lost physical abilities due to strokes.

Important Note: The information provided here is for general knowledge and does not constitute medical advice. Always consult with a healthcare professional for diagnosis and treatment of any medical condition.

footer.address

footer.talkToAugust

footer.disclaimer

footer.madeInIndia