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All You Need to Know about Moyamoya Disease

By Dr. Sahil Kohli in Neurosciences , Neurology

Mar 14 , 2024 | 10 min read

Moyamoya disease is a rare but concerning cerebrovascular condition, characterized by the gradual narrowing of certain blood vessels at the base of the brain. As a result of this narrowing, the brain develops a compensatory network of small blood vessels to bypass the blocked arteries, forming a characteristic "puff of smoke" appearance on imaging studies, which is the origin of the name "moyamoya" (meaning "puff of smoke" in Japanese). In this article, we shed some light on Moyamoya Disease, including its etiology, diagnostic approaches, and treatment options. 

What Causes Moyamoya Disease?

While the exact cause of Moyamoya disease remains unclear, researchers believe that certain factors can play a role in its development. These include: 

  • Genetic factors: Genetic mutations linked to blood vessel development and formation may contribute to the narrowing or blockage of arteries in the brain.
  • Ethnicity and geographic prevalence: Moyamoya disease is more common in people of Asian descent, particularly in Japan, where it was first described.
  • Environmental factors: Environmental influences might play a role in the development or progression of the condition, but their significance is still being investigated.

Signs of Moyamoya Disease

The signs and symptoms of Moyamoya disease can vary among individuals and may evolve over time. These may include:

  • Transient ischemic attacks (TIAs): Brief episodes of neurological dysfunction, often resembling mini-strokes, leading to temporary symptoms such as weakness, numbness, or paralysis in a limb, difficulty speaking, or vision changes.
  • Ischemic strokes: Sudden onset of symptoms such as weakness, paralysis, or sensory disturbances on one side of the body, difficulty speaking, or loss of consciousness due to reduced blood flow to the brain.
  • Seizures: Uncontrolled electrical disturbances in the brain that may cause seizures in some individuals with Moyamoya disease.
  • Headaches: Frequently recurrent headaches might occur, ranging from mild to severe.
  • Cognitive changes: Issues with memory, thinking, and other cognitive functions can develop, particularly in children with the condition.
  • Vision problems: Blurred vision, loss of vision in one eye, or other visual disturbances might occur due to reduced blood flow to the eyes.
  • Weakness or paralysis: Sudden weakness or paralysis on one side of the body, known as hemiparesis or hemiplegia, can occur during strokes.

If you or someone you know experiences any of these symptoms, especially if they are sudden or recurrent, seeking immediate medical attention is crucial for proper evaluation, diagnosis, and management.

Stages of Moyamoya Disease

Moyamoya disease typically progresses through stages characterized by the degree of vascular changes and the associated risk of developing symptoms or complications. The stages of Moyamoya disease are often categorized as follows:

1. Early stage: Pre-stroke phase

At this initial stage, individuals might not experience any significant symptoms, or if present, the symptoms might be subtle and easily overlooked. The major hallmark of this stage is the development of the characteristic "puff of smoke" collateral vessels that form to compensate for the reduced blood flow due to the narrowing of major brain arteries.

2. Symptomatic stage: Transient ischemic attack (TIA) phase

During this stage, individuals might begin experiencing symptoms due to reduced blood flow to the brain. Symptoms can include transient ischemic attacks (TIAs), often referred to as mini-strokes. These TIAs are brief episodes of neurological dysfunction, manifesting as temporary weakness, numbness, speech difficulties, or visual disturbances.

3. Stroke phase

As the disease progresses, the risk of more severe strokes increases. Ischemic strokes, resulting from reduced blood flow, can lead to more pronounced and lasting neurological deficits, such as weakness, paralysis, speech difficulties, or other neurological impairments.

4. Late stage: Late-onset stroke phase

In this advanced stage, the risk of severe and recurrent strokes might persist. Individuals may experience a higher frequency of ischemic or hemorrhagic strokes, leading to more significant and lasting neurological impairment.

Please note that not everyone will necessarily go through all these stages, and the disease might progress at different rates. 

Early diagnosis and intervention are critical to potentially slow or halt disease progression and reduce the risk of developing more severe symptoms or complications. 

Diagnosis of Moyamoya Disease

Diagnosing moyamoya disease typically involves a combination of medical history review, physical examination, and imaging tests. Key steps in the diagnostic process include:

  • Medical history and physical examination: The doctor will inquire about the individual's symptoms, medical history, and conduct a physical examination to assess neurological function.
  • Imaging studies: Specific imaging tests are crucial for confirming a diagnosis. These may include:
  • Magnetic Resonance Imaging (MRI): This provides detailed images of the brain, showing abnormalities in blood vessels and any signs of reduced blood flow or stroke.
  • Magnetic Resonance Angiography (MRA): This specialized MRI technique focuses on blood vessels and can visualize changes in the brain's arteries.
  • CT Scan: CT scans might be used to identify any signs of stroke or abnormalities in the brain.
  • Cerebral angiography: This invasive test involves injecting contrast dye into blood vessels to visualize the arteries directly, offering a definitive view of the changes in the blood vessels characteristic of Moyamoya disease.
  • Other tests: Additional tests, such as blood tests to rule out other conditions and tests to assess cognitive function, might be recommended to understand the full impact of the disease on the individual's health.

The definitive diagnosis of Moyamoya disease is often made based on the characteristic appearance of the narrowed blood vessels, especially the development of the abnormal network of collateral blood vessels, observed through imaging studies.

Treatment of Moyamoya Disease

The treatment of Moyamoya disease is aimed at improving blood flow to the brain, preventing strokes, and managing symptoms. Treatment options include:

Surgical revascularization

Surgical revascularization procedures serve as a primary treatment for Moyamoya disease. These interventions are aimed at enhancing blood flow to the brain and reducing the risk of strokes. Two main surgical techniques are used:

  • Direct bypass surgery: This procedure involves connecting a healthy blood vessel from the scalp to a blood vessel on the surface of the brain, providing a direct route for blood flow. By bypassing the narrowed arteries, it aims to improve blood supply to the affected areas.
  • Indirect bypass surgery: Indirect bypass entails placing a surgical material on the brain's surface to prompt the growth of new blood vessels over time. This technique stimulates the formation of collateral vessels, further enhancing blood flow to compensate for the narrowed arteries.

Medication management

Medications play a supportive role in managing Moyamoya disease. They can include:

  • Antiplatelet agents: Medications to reduce the risk of blood clots, helping to prevent strokes.
  • Blood pressure medication: Controlling hypertension is crucial in managing the disease and reducing the risk of further complications.
  • Anticonvulsants: In cases where seizures occur, these medications can help manage and prevent seizure activity.

In addition to treating the underlying condition, medications might be prescribed to alleviate symptoms such as headaches or other associated manifestations.

Ongoing monitoring and care

Regular check-ups and follow-up appointments with a specialized doctor are essential. This allows for the evaluation of disease progression, assessment of treatment effectiveness, and the identification of any emerging complications, ensuring optimal management and improved outcomes for individuals affected by moyamoya disease.

Living with Moyamoya Disease

Living with moyamoya disease can present various challenges, but with proper management and support, individuals can lead fulfilling lives. Here are some considerations for individuals living with moyamoya disease:

Lifestyle adjustments

  • Healthy lifestyle: Adopting a healthy lifestyle, including a balanced diet, regular exercise, and avoiding habits like smoking, can positively impact overall health.
  • Stress management: Stress can potentially exacerbate symptoms, so managing stress through relaxation techniques or counseling can be beneficial.

Emotional support

  • Support networks: Engaging with support groups or connecting with others living with the same condition can provide emotional support and a sense of community.
  • Mental health support: Seeking professional help for emotional well-being, especially during challenging times, can be beneficial.

Daily living

Adaptive strategies: Individuals might need to adapt certain activities or seek assistive devices if they experience neurological symptoms that affect daily living.

  • Career and education: Finding a balance between work or education and managing the condition might require adjustments in workload or learning accommodations.
  • Educating others: Raising awareness about Moyamoya disease among family, friends, and the broader community can foster understanding and support.
  • Advocacy: Participating in advocacy efforts or fundraisers to support research and raise awareness can contribute to improving the understanding and treatment of Moyamoya disease.

Planning for the future

  • Advanced directives: Discussing future medical care preferences with family and healthcare providers is important to ensure wishes are known and respected.
  • Financial planning: Considering long-term medical care and possible lifestyle changes is prudent for financial preparedness.

When it comes to effective treatment and management of moyamoya disease, seeking specialized care from a renowned institution such as Max Hospitals stands as a pivotal step. Equipped with a dedicated team of experienced neurologists, neurosurgeons, and a multidisciplinary healthcare approach, we offer cutting-edge diagnostics, advanced treatment options, and a compassionate support system to aid individuals in their journey with moyamoya disease. Consulting a moyamoya specialist at Max Hospitals means tailored treatment, compassionate care, and an unwavering commitment to medical excellence. 

Frequently Asked Questions about Moyamoya Disease

Q. Is moyamoya disease fatal?

With proper management and treatment, the prognosis for individuals with Moyamoya disease can be favorable. However, without treatment, the risk of severe strokes and complications increases, potentially leading to disability or even death.

Q. Can moyamoya disease be cured?

While Moyamoya disease cannot be completely cured, early diagnosis and appropriate interventions can help manage the condition, reduce the risk of strokes, and improve quality of life.

Q. Is moyamoya disease preventable?

As the exact cause is not entirely known, and genetic factors are believed to play a role, prevention measures are limited. However, early diagnosis, appropriate interventions, and ongoing care can significantly mitigate the progression and complications of the disease.

Q. Who is more likely to get moyamoya disease?

Moyamoya disease can affect individuals of any age or ethnicity. However, it is more prevalent in people of Asian descent.

Q. Can moyamoya disease be hereditary?

Yes, in some cases, Moyamoya disease has a hereditary component and can run in families, suggesting a genetic predisposition.

Q. What are the long-term effects of moyamoya disease?

Long-term effects can vary, but they might include cognitive impairment, recurrent strokes, neurological deficits, and, in severe cases, permanent disability. Effective management and treatment can help mitigate long-term effects.

Q. Can children get moyamoya disease?

Yes, Moyamoya disease can affect children, and pediatric cases are not uncommon. Early diagnosis and appropriate interventions are crucial for managing the condition in children.

Q. Can moyamoya disease be managed without surgery?

While surgical revascularization is the primary treatment, medication and lifestyle changes may help manage symptoms. However, these approaches might not address the underlying vascular changes as effectively as surgery.

Q. How often should individuals with moyamoya disease have medical check-ups?

Regular check-ups and follow-ups are essential, and the frequency might depend on the individual's specific condition and treatment plan. Typically, frequent monitoring is necessary to assess disease progression and treatment effectiveness.

Q. Is moyamoya disease a form of dementia?

Moyamoya disease itself is not dementia, but it can lead to cognitive impairment due to reduced blood flow to the brain. Over time, this reduction in blood flow can result in cognitive decline, but it is not classified as a specific type of dementia.

Q. How does pregnancy affect moyamoya disease?

Pregnancy can pose additional risks for women with Moyamoya disease due to increased stress on the cardiovascular system. Close monitoring and specialized care are essential for pregnant women with this condition.

Q. Can moyamoya disease affect vision?

Yes, reduced blood flow to the eyes due to Moyamoya disease can lead to visual disturbances or even vision loss. Early diagnosis and treatment are crucial in preventing such complications.

Q. What is the life expectancy for individuals with moyamoya disease?

Life expectancy can vary depending on the severity of the disease, the age of diagnosis, and the effectiveness of treatments. With proper management, many individuals can lead a normal life expectancy.

Q. Can moyamoya disease recur after surgery?

While surgical revascularization can improve blood flow, the disease might progress or recur in some cases. Regular follow-ups and monitoring are essential to assess the effectiveness of treatments and identify any disease progression.

Q. Can children with moyamoya disease participate in sports?

Engagement in sports or physical activities should be discussed with healthcare professionals. While some activities might be safe, high-impact or contact sports could carry risks due to the potential for injury.

Q. Can stress worsen symptoms of moyamoya disease?

Stress can potentially exacerbate symptoms or increase the risk of complications, so stress management techniques can be helpful in managing the condition.