What is Moyamoya Disease?

11 Jan 2022
Discover the causes of Moyamoya disease, its symptoms, diagnosis process, and the most effective treatment options available.

Introduction to Moyamoya Disease

In the vast realm of medical conditions, Moyamoya disease sparks a peculiar interest due to its unique characteristics and the relative mystery surrounding its causes.

What is Moyamoya Disease?

Moyamoya disease is a rare, progressive cerebrovascular disorder. The term 'Moyamoya' means 'puff of smoke' in Japanese, a description that reflects the appearance of the tangle of tiny vessels formed to compensate for the blockage in the brain's arteries.

The disease primarily affects two main arteries in the brain, causing them to narrow over time. This constriction restricts blood flow, leading to a myriad of symptoms ranging from mild (such as headaches and seizures) to severe (like strokes and cognitive impairment).

While it can affect individuals of any age, Moyamoya disease predominantly impacts children and adults in their thirties and forties. The disease's rarity, coupled with its significant potential impact on a person's quality of life, underscores the importance of understanding the causes of Moyamoya disease and the available treatment options.

Brief History and Origin of the Name

The first known cases of Moyamoya disease were identified in Japan in the 1960s. The unique appearance of the cluster of blood vessels on an X-ray, which resembled a 'puff of smoke', led to the disease's distinctive name.

Over time, as medical technology and knowledge have advanced, the understanding of Moyamoya disease has expanded. It is now recognized as a global disease, albeit still relatively rare, affecting individuals across various ethnic groups and geographical locations.

Despite these advancements, the precise causes of Moyamoya disease remain somewhat elusive, although genetic and environmental factors seem to play a critical role. The ongoing research and exploration into the origins and management of Moyamoya disease emphasize the need for continued awareness and understanding of this complex condition.

The Causes of Moyamoya Disease

Determining the exact origin of moyamoya disease remains a challenge for medical researchers. However, several factors have been identified that may contribute to the development of this condition. These include genetic factors, environmental influences, and other potential causes.

Moyamoya Disease | Children's Hospital of Philadelphia
Source: chop.edu

Genetic Factors

Genetics play a significant role in the development of moyamoya disease. Certain genetic mutations, particularly those related to the RNF213 gene, have been associated with an increased risk of developing this condition.

This gene plays a vital role in blood vessel development and maintenance. Mutations in this gene can result in abnormal blood vessel formation, particularly in the brain, leading to the characteristic symptoms of moyamoya disease. However, not all individuals with these genetic mutations develop the disease, suggesting that additional factors are likely involved.

Environmental Factors

Environmental factors are also believed to contribute to the development of moyamoya disease. Exposure to certain environmental conditions or events, such as radiation therapy for brain tumors, can increase the risk of developing the condition.

It is important to note that while radiation therapy can increase the risk of moyamoya disease, the condition is relatively rare, even among individuals who have undergone such treatment.

Other Potential Causes

There are other potential causes of moyamoya disease that are currently being investigated by researchers. These include certain autoimmune diseases, hormonal factors, and other unknown causes.

While the exact causes of moyamoya disease remain unknown, understanding these potential factors can help researchers develop more effective treatment strategies and preventive measures. It's crucial to continue supporting research in this area to further our understanding of this complex and rare disease.

Symptoms of Moyamoya Disease

Recognizing the symptoms of Moyamoya disease is paramount in timely diagnosis and treatment. The symptoms manifest differently in children and adults due to the variance in brain development and the body's resilience to changes in blood flow.

Common Symptoms in Children

In children, Moyamoya disease often presents with various neurological symptoms. The most common ones include:

  1. Transient Ischemic Attacks (TIAs) - Often referred to as "mini-strokes," these temporary episodes of reduced blood flow to the brain can cause sudden, brief symptoms like muscle weakness or numbness.
  2. Seizures - The reduced blood flow can trigger seizures, which are sudden, uncontrolled electrical disturbances in the brain.
  3. Developmental Delays - Some children with Moyamoya disease may show signs of developmental delays or difficulties in learning.
  4. Motor or Coordination Problems - Issues with movement or coordination can also be a symptom of this disease.

It's important to note that these symptoms can vary widely in severity and frequency, depending on the child and the progression of the disease.

Common Symptoms in Adults

While adults can also experience the symptoms observed in children, there are several additional symptoms commonly seen in adults with Moyamoya disease:

  1. Hemorrhagic Stroke - This is a type of stroke caused by a ruptured blood vessel in the brain, leading to bleeding in or around the brain.
  2. Headaches - Persistent or recurring headaches can be a symptom of Moyamoya disease.
  3. Cognitive Impairment - Adults may experience difficulties with thinking, understanding, learning, or remembering.
  4. Vision Problems - Changes in vision, including blurred vision, vision loss, or double vision, can also occur.

As with children, the symptoms in adults can vary significantly in their severity and frequency.

Understanding these symptoms can help in recognizing the presence of Moyamoya disease. However, it is crucial to seek medical evaluation if these symptoms are experienced, as they can be indicative of various neurological conditions, including Moyamoya disease.

Diagnosing Moyamoya Disease

Identifying the presence of moyamoya disease involves a series of diagnostic procedures and tests. The process often begins with neuroimaging to visualize the blood vessels within the brain, followed by other tools and tests to confirm the diagnosis.

Role of Neuroimaging

Neuroimaging plays a crucial role in the diagnosis of moyamoya disease. It provides a detailed view of the brain's blood vessels, revealing any abnormalities or blockages that could indicate the presence of the disease.

The most commonly used neuroimaging techniques include:

  1. Magnetic Resonance Imaging (MRI): An MRI uses magnetic fields and radio waves to create detailed images of the brain. It can reveal the presence of abnormal blood vessels and any areas of the brain affected by reduced blood flow.
  2. Magnetic Resonance Angiography (MRA): An MRA is a type of MRI that specifically looks at the blood vessels. It can provide a detailed view of the cerebral arteries and detect the characteristic narrowing and blockages seen in moyamoya disease.
  3. Computed Tomography Angiography (CTA): A CTA uses x-rays to create detailed images of the blood vessels in the brain. It can help to visualize the small collateral vessels that form in response to the blockages, a key sign of moyamoya disease.

These imaging techniques provide valuable insights into the vascular changes associated with moyamoya disease. However, they might not always be sufficient to confirm the diagnosis, necessitating the use of additional diagnostic tools.

Other Diagnostic Tools and Tests

In addition to neuroimaging, other tools and tests may be used to diagnose moyamoya disease. These can help to assess the extent of the disease and determine the best course of treatment.

One of these tools is cerebral angiography. This is a procedure in which a dye is injected into the blood vessels to make them visible on x-ray images. It can provide a detailed view of the blood vessels in the brain and highlight the 'puff of smoke' appearance that is characteristic of moyamoya disease.

In some cases, additional tests may be needed to assess the brain's function and determine the impact of reduced blood flow on cognitive and physical capabilities. These could include neuropsychological tests to evaluate memory, attention, and problem-solving skills, or electroencephalography (EEG) to measure the electrical activity in the brain.

Diagnosing moyamoya disease can be a complex process that requires a comprehensive evaluation of the individual's symptoms, medical history, and the results of various tests and procedures. This thorough approach ensures that the causes of the individual's symptoms are accurately identified, paving the way for appropriate treatment strategies.

Treatment Options for Moyamoya Disease

Moyamoya disease, a rare neurological disorder characterized by the progressive narrowing of blood vessels in the brain, requires a comprehensive treatment approach. The primary goal of treatment is to reduce the risk of strokes and manage symptoms. The treatment options are largely categorized into surgical interventions, non-surgical treatments, and supportive therapies.

Surgical Interventions

Surgical interventions for moyamoya disease aim to improve blood flow to the brain by bypassing the blocked arteries. There are different types of surgical procedures, including direct bypass and indirect bypass.

  • Direct bypass involves connecting a scalp artery directly to a brain artery to augment blood flow.
  • Indirect bypass involves laying a piece of blood vessel-rich scalp tissue onto the brain's surface to stimulate the growth of new vessels over time.

The choice between direct and indirect bypass depends on various factors, including the patient's age and the severity of the disease.

Non-Surgical Treatments

Non-surgical treatments may be recommended for managing symptoms or reducing the risk of stroke. These can include medications to prevent blood clots, such as aspirin, or treatments for related conditions like high blood pressure. It's important to note that while these treatments can help manage symptoms, they do not address the underlying causes of moyamoya disease.

Supportive Therapies

In addition to surgical and non-surgical interventions, supportive therapies can play a key role in managing moyamoya disease. These can include physical, occupational, or speech therapy to help manage symptoms and improve quality of life. For children with moyamoya disease, educational support and special accommodations at school may be beneficial.

Each patient's treatment plan is tailored to their specific needs and severity of the disease. A team of healthcare professionals including neurologists, neurosurgeons, and therapists collaborate to provide the most comprehensive and effective care possible.

Living with Moyamoya Disease

Managing a condition such as Moyamoya disease entails understanding the long-term prognosis and making necessary lifestyle adjustments. These are two crucial aspects that can have a significant impact on the quality of life for those affected by this condition.

Long-Term Prognosis

The long-term prognosis for Moyamoya disease largely depends on several factors such as the patient's age at diagnosis, the severity of the disease, and the effectiveness of the treatment administered. Early diagnosis and prompt treatment often lead to a better prognosis.

In many cases, surgical interventions can effectively restore blood flow to the brain, reducing the risk of stroke and improving symptoms. However, it's important to note that while surgery can halt the progression of the disease, it may not entirely eliminate the risk of future strokes or cognitive decline.

Despite the challenges, many individuals with Moyamoya disease lead productive lives. Regular follow-ups with the healthcare team and consistent monitoring of the condition are crucial for managing the disease effectively.

Lifestyle Adjustments and Coping Strategies

Living with Moyamoya disease might require certain lifestyle adjustments. These changes aim to reduce the risk of stroke and promote overall health. Here are some strategies that can help:

  1. Healthy Eating: A balanced diet rich in fruits, vegetables, whole grains, lean proteins, and low-fat dairy products can promote overall health. Reducing the intake of sodium and processed foods can also help manage blood pressure levels.
  2. Regular Exercise: While strenuous activities might be discouraged, gentle physical activities such as walking or swimming can improve cardiovascular health. However, it's crucial to discuss with the healthcare team before starting any exercise regimen.
  3. Stress Management: Stress can exacerbate symptoms and increase the risk of stroke. Therefore, implementing stress management techniques such as meditation, deep breathing exercises, and yoga can be beneficial.
  4. Regular Medical Checkups: Regular follow-ups with the healthcare team help monitor the condition and make timely adjustments to the treatment plan.
  5. Support System: Living with a chronic condition can be emotionally challenging. Therefore, having a strong support system consisting of family, friends, or support groups can provide emotional assistance.

Living with Moyamoya disease can pose challenges, but with the right coping strategies and lifestyle adjustments, individuals can manage their symptoms and maintain a good quality of life. As with any chronic condition, it's crucial to work closely with the healthcare team to understand the causes of Moyamoya disease and make informed decisions about treatment and care.


Moyamoya disease is a rare and complex neurological condition that can significantly impact an individual's life. Its diagnosis and treatment require a comprehensive approach that involves the collaboration of healthcare professionals from various disciplines. While surgical and non-surgical interventions can help manage symptoms and reduce the risk of stroke, lifestyle adjustments, coping strategies, and emotional support are equally crucial.

This article aimed to provide a comprehensive overview of Moyamoya disease, including its symptoms, diagnosis, treatment options, and long-term prognosis. By understanding this condition better, individuals with Moyamoya disease can make informed decisions about their care and take necessary steps to manage their symptoms effectively.

It's important to note that each case of Moyamoya disease is unique, and the information provided in this article is not meant to replace medical advice. Individuals with Moyamoya disease should work closely with their healthcare team to understand their specific needs and develop a tailored treatment plan that addresses their unique circumstances.

In conclusion, increasing awareness about Moyamoya disease can lead to earlier diagnosis and prompt intervention, ultimately improving outcomes for those affected by this condition. Continued research into this rare disorder will further our understanding of the underlying causes and potential treatments for this challenging neurological condition.


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