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Moyamoya Disease

Disease Details

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Description: Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain, leading to the development of abnormal collateral vessels.
Type: Moyamoya disease can be either sporadic or inherited. When it is inherited, it typically follows an autosomal dominant pattern of genetic transmission.
Signs And Symptoms: ### Signs and Symptoms
Moyamoya disease is a rare, progressive cerebrovascular disorder affecting the arteries at the base of the brain. The symptoms vary depending on age and the severity of the condition. Common signs and symptoms include:

- **Ischemic Stroke or TIA**: Sudden onset of neurological deficits due to reduced blood flow.
- **Hemorrhagic Stroke**: Bleeding in the brain due to ruptured blood vessels.
- **Headaches**: Often severe and persistent.
- **Seizures**: More common in pediatric patients.
- **Cognitive Decline**: Progressive difficulty with thinking and memory.
- **Weakness or Paralysis**: Usually on one side of the body.
- **Vision Problems**: Blurred vision or vision loss.
- **Speech Difficulties**: Trouble speaking or understanding speech.
- **Involuntary Movements**: Twitching or jerking movements.

### Not Applicable (N/A)
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Prognosis: The natural history of this disorder is not well known. The long term outlook for patients with treated moyamoya seems to be good when direct bypass is used. Although symptoms may seem to improve almost immediately after the in-direct EDAS, EMS, and multiple burr holes surgeries, it will take probably 6 to 12 months before new vessels can develop to give a sufficient blood supply. With the direct STA-MCA surgery, increased blood supply is immediate.Once a major stroke or bleeding takes place, even with treatment, the patient may be left with permanent loss of function so it is very important to treat this condition promptly.
Onset: Moyamoya disease can have an onset at any age, but it is most commonly diagnosed in children aged 5 to 10 years and in adults in their 30s to 40s.
Prevalence: Moyamoya disease is relatively rare, with a prevalence estimated to be approximately 1 in 100,000 to 1 in 1,000,000 people worldwide. The condition is more common in East Asian countries, particularly Japan, Korea, and China, where the prevalence can be higher, around 3.16 per 100,000 people in Japan.
Epidemiology: Moyamoya disease is a rare, progressive cerebrovascular disorder characterized by the narrowing or occlusion of arteries at the base of the brain. Epidemiologically, it is more prevalent in East Asian countries, particularly Japan, Korea, and China, but it is increasingly recognized globally. The disease has a higher incidence in females than males, with a peak of onset in children around 5 years old and in adults in their 30s to 50s. Genetic factors are believed to play a significant role, especially given the higher incidence in certain populations and familial cases.
Intractability: Moyamoya disease is often considered intractable because it is a progressive cerebrovascular disorder for which there is currently no cure. The disease involves the gradual occlusion of the arteries at the base of the brain, leading to the development of abnormal vascular networks. While treatments like revascularization surgery can alleviate symptoms and improve blood flow, they do not cure the disease itself. Long-term management and monitoring are typically required. The intractability varies depending on individual cases, including the timing of diagnosis and effectiveness of interventions.
Disease Severity: Moyamoya disease is a progressive cerebrovascular disorder caused by the narrowing or blockage of arteries at the base of the brain. Disease severity can vary widely among individuals. Some may experience mild symptoms, while others may face severe complications such as recurrent strokes or transient ischemic attacks. The condition often necessitates ongoing medical management or surgical interventions to improve blood flow to prevent further ischemic events. Early diagnosis and treatment are crucial for better outcomes.
Healthcare Professionals: Disease Ontology ID - DOID:13099
Pathophysiology: The disease moyamoya, which is a Japanese mimetic word, gets its characteristic name due to the appearance of smoke on relevant angiographs resultant from the tangle of tiny vessels in response to stenosis. This makes the blood leak out of the arteries, causing pressure to the brain and subsequent headaches. Over the last six decades since the disease was first described, pathogenesis of moyamoya disease remained elusive, although the gene ring finger protein 213 (RNF213) has been implicated. In September 2021, a south Indian researcher has proposed a pathbreaking theory on moyamoya pathogenesis. Coined the "Mechano-biological theory", the disease has a multifactorial pathogenesis. The authors provide a tangible explanation of the occurrence of moyamoya phenomenon in the idiopathic and syndromic variants of the disease. In short, the authors report that moyamoya disease likely occurs due to a number of factors (e.g., differences in vascular anatomy) that ultimately contribute to broad cerebral blood vessel occlusion and consequent shifts in vessel connections to try to provide blood for the compromised brain.Once it begins, the vascular occlusion tends to continue despite any known medical management. In some people this leads to transient ischemic attacks or repeated strokes with severe functional impairment or even death. In others, the blockage may not cause any symptoms.The disease causes constrictions primarily in the internal carotid artery, and often extends to the middle and anterior cerebral arteries, branches of the internal carotid artery inside the skull. When the internal carotid artery becomes completely blocked, the fine collateral circulation that it supplies is obliterated. Patients often survive on the collateral circulation from the back (posterior) of the circle of Willis, arising from the basilar artery.The arterial constrictions in moyamoya disease are unlike the constrictions in atherosclerosis. In atherosclerosis, the walls of arteries are damaged, leading to the deposition of fat and immune cells, and ultimately the accumulation of immune cells laden with fat. In moyamoya, the inner layer of the carotid artery proliferates within the arterial lumen. The artery also fills with blood clots, which may cause strokes.Moyamoya disease tends to affect adults in the third to fourth decade of life. In children it tends to cause strokes or seizures. In adults it tends to cause strokes or bleeding. The clinical features are strokes, recurrent transient ischemic attacks (TIAs), sensorimotor paralysis (numbness and paralysis of the extremities), convulsions and/or migraine-like headaches. Moreover, following a stroke, secondary bleeding may occur. Such bleeding, called hemorrhagic strokes, may also stem from rupture of the weak neovascular vessel walls.
Carrier Status: Moyamoya disease is not typically referred to in terms of "carrier status" because it is primarily a progressive cerebrovascular disorder rather than a single-gene genetic condition with carriers. While genetic factors may contribute to the disease, especially in familial cases, it is not commonly associated with a specific carrier state like some other genetic disorders.
Mechanism: Moyamoya disease is a rare cerebrovascular disorder characterized by progressive stenosis and occlusion of the cerebral arteries, particularly the internal carotid arteries and their major branches. The term "moyamoya" means "puff of smoke" in Japanese, referring to the appearance of the collateral vessels that develop to compensate for the reduced blood flow.

### Mechanism
1. **Vascular Occlusion**: The primary mechanism involves narrowing of the blood vessels at the base of the brain, leading to reduced blood flow to the brain.
2. **Collateral Formation**: As a response to this occlusion, a network of tiny blood vessels forms to supply the brain with adequate blood flow. These collateral vessels are fragile and prone to bleeding.
3. **Ischemia and Hemorrhage**: The reduced blood flow can cause strokes due to ischemia (insufficient blood supply) or hemorrhage (bleeding due to ruptured fragile collateral vessels).

### Molecular Mechanisms
1. **Genetic Factors**: Moyamoya disease may have a genetic component. Mutations in the RNF213 gene have been identified as a significant genetic risk factor, particularly in East Asian populations.
2. **Endothelial Dysfunction**: Abnormalities in endothelial cells, which line the blood vessels, can lead to vascular abnormalities, contributing to the disease.
3. **Inflammatory and Angiogenic Pathways**: Pathways involving inflammation and angiogenesis (formation of new blood vessels) are disrupted. Elevated levels of certain cytokines and growth factors, such as vascular endothelial growth factor (VEGF), have been observed.
4. **Proteolytic Enzymes**: Abnormal expression of matrix metalloproteinases (MMPs), which degrade components of the extracellular matrix, might contribute to vascular remodeling and the formation of fragile collateral vessels.
5. **Smooth Muscle Cell Proliferation**: Abnormal proliferation of smooth muscle cells in the walls of cerebral arteries might contribute to vessel thickening and narrowing.

Understanding these mechanisms is crucial for developing therapeutic strategies and improving management for patients with Moyamoya disease.
Treatment: Antiplatelet drugs (including aspirin) are usually given to prevent clots, but surgery is usually recommended. Because moyamoya tends to affect only the internal carotid artery and nearby sections of the adjacent anterior and middle cerebral arteries, surgeons can direct other arteries, such as the external carotid artery or the superficial temporal artery to replace its circulation. The arteries are either sewn directly into the brain circulation, or placed on the surface of the brain to reestablish new circulation after a few weeks.There are many operations that have been developed for the condition, but currently the most favored are the in-direct procedures EDAS, EMS, and multiple burr holes and the direct procedure STA-MCA. Combined revascularisation procedure, which includes both the direct superficial temporal artery (STA) to middle cerebral artery (MCA) bypass (also known as ECIC bypass) performed with a combination of in-direct procedures is considered the treatment of choice. Although its efficacy, particularly for hemorrhagic disease, remains uncertain, the procedure is thought to reduce the hemodynamic burden on the engorged collateral blood vessels. Multiple burr holes have been used in frontal and parietal lobes with good neovascularisation achieved.The EDAS (encephaloduroarteriosynangiosis) procedure is a synangiosis procedure that requires dissection of a scalp artery over a course of several centimeters and then making a small temporary opening in the skull directly beneath the artery. The artery is then sutured to a branch of the middle cerebral artery on the surface of the brain and the bone is replaced.In the EMS (encephalomyosynangiosis) procedure, the temporalis muscle, which is in the temple region of the forehead, is dissected and through an opening in the skull placed onto the surface of the brain.In the multiple burr holes procedure, multiple small holes (burr holes) are placed in the skull to allow for growth of new vessels into the brain from the scalp.In the STA-MCA procedure, the scalp artery (superficial temporal artery or STA) is directly sutured to an artery on the surface of the brain (middle cerebral artery or MCA). This procedure is also commonly referred to as an EC-IC (External Carotid-Internal Carotid) bypass.All of these operations have in common the concept of a blood and oxygen "starved" brain reaching out to grasp and develop new and more efficient means of bringing blood to the brain and bypassing the areas of blockage. The modified direct anastomosis and encephalo-myo-arterio-synangiosis play a role in this improvement by increasing cerebral blood flow (CBF) after the operation. A significant correlation is found between the postoperative effect and the stages of preoperative angiograms. It is crucial for surgery that the anesthesiologist have experience in managing children being treated for moyamoya, as the type of anesthesia they require is very different from the standard anesthetic children get for almost any other type of neurosurgical procedure.
Compassionate Use Treatment: Compassionate use treatment and off-label or experimental treatments for Moyamoya disease may include:

1. **Medications:**
- **Antiplatelet agents (e.g., aspirin):** To reduce the risk of stroke.
- **Calcium channel blockers:** To manage symptoms like headaches.
- **Anticoagulants:** Although not typically first-line, they may be used in specific cases under close medical supervision.

2. **Surgical Interventions:**
- **Indirect revascularization procedures:** These are often considered when direct methods are not feasible. Techniques include EDAS (encephaloduroarteriosynangiosis) and multiple burr hole surgery.

3. **Gene Therapy:**
- Still in research phases but may offer potential future treatment options by targeting the genetic aspects of the disease.

4. **Stem Cell Therapy:**
- Experimental use in clinical trials to promote angiogenesis and improve blood flow.

5. **Vasodilators:**
- Researchers are exploring the use of various vasodilatory drugs to enhance cerebral perfusion and reduce ischemic episodes.

6. **Interventional Radiology:**
- Techniques such as angioplasty or stenting are experimental and considered on a case-by-case basis depending on patient-specific factors.

These treatments are typically considered when standard approaches are ineffective or when participating in clinical trials. Always consult with a healthcare provider to understand the best options based on individual patient circumstances.
Lifestyle Recommendations: For moyamoya disease, the following lifestyle recommendations may be beneficial:

1. **Monitor Symptoms:** Regularly monitor for any new or worsening symptoms and seek immediate medical attention if necessary.

2. **Control Blood Pressure:** Maintain healthy blood pressure levels through prescribed medications and lifestyle changes such as diet and exercise.

3. **Avoid Stressful Activities:** Refrain from activities that could lead to sudden increases in blood pressure or stress.

4. **Healthy Diet:** Consume a balanced diet rich in fruits, vegetables, whole grains, lean proteins, and healthy fats to promote overall cardiovascular health.

5. **Regular Exercise:** Engage in moderate physical activity regularly, but avoid extreme exertion as advised by your healthcare provider.

6. **Hydration:** Stay well-hydrated, as dehydration can increase blood viscosity and may exacerbate symptoms.

7. **Avoid Smoking and Alcohol:** Quit smoking and limit alcohol consumption, as these can affect vascular health.

8. **Medical Follow-Up:** Regularly attend follow-up appointments to monitor disease progression and adjust treatments as needed.

9. **Medication Adherence:** Take all prescribed medications as instructed by your physician to manage symptoms and prevent complications.

These lifestyle adjustments can help manage moyamoya disease and improve overall quality of life. Always consult with a healthcare provider for personalized recommendations.
Medication: Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain. Medications for Moyamoya disease are generally used to manage symptoms and prevent complications, as there is no specific drug to cure the disease. Treatments might include:

1. **Antiplatelet agents:** Such as aspirin to reduce the risk of stroke by preventing blood clots.
2. **Anticoagulants:** Such as warfarin, which also help in reducing clot formation.
3. **Calcium channel blockers:** Such as nimodipine, which might be used to manage headaches and minimize the vasoconstriction of blood vessels.

These medications are part of a broader strategy that may also include surgical interventions to improve blood flow to the brain. It is vital to work closely with a healthcare provider to tailor the treatment to the individual patient's needs.
Repurposable Drugs: Moyamoya disease is a rare, progressive cerebrovascular disorder characterized by the narrowing of arteries at the base of the brain. Due to its rarity, specific repurposable drugs for moyamoya disease have not been extensively established. However, certain drugs used for other conditions may be considered to manage symptoms or secondary complications:

1. **Antiplatelet Agents:** Aspirin is commonly used to reduce the risk of stroke by preventing blood clots.
2. **Calcium Channel Blockers:** These may help manage headaches and improve blood flow in some cases.
3. **Statins:** Generally used to lower cholesterol, statins may help improve vascular health.

It's important to note that treatment strategies should be individualized and managed by a healthcare professional experienced in moyamoya disease.
Metabolites: In moyamoya disease, specific metabolites are not typically the primary focus, as the disorder is primarily related to vascular changes in the brain. However, some metabolic changes may be secondary to the disease. Elevated levels of lactate and pyruvate in cerebrospinal fluid and serum can sometimes be observed, suggesting disturbances in energy metabolism due to chronic cerebral ischemia. Further metabolic profiling in this disease may require specialized diagnostic approaches and comprehensive metabolic analysis.
Nutraceuticals: There are no well-established nutraceuticals specifically proven to treat Moyamoya disease. Moyamoya disease is a rare cerebrovascular disorder characterized by the progressive narrowing of arteries at the base of the brain, leading to strokes and other complications. Management typically involves medications to prevent strokes and surgical revascularization procedures to improve blood flow. Nutraceuticals or dietary supplements should not be considered a substitute for medical treatment in managing this condition. Always consult healthcare professionals for proper diagnosis and treatment options tailored to individual needs.
Peptides: Moyamoya disease is a rare cerebrovascular condition characterized by the progressive stenosis and occlusion of arteries at the base of the brain. As a response, abnormal vascular networks form to compensate for reduced blood flow. Peptides and nanotechnology are not standard treatment approaches for moyamoya disease. Treatment generally involves surgical revascularization procedures such as direct or indirect bypass surgery to improve cerebral blood flow. However, research and developments in other medical fields might explore the potential use of peptides and nanotechnology for related vascular conditions or in experimental treatments for moyamoya disease in the future.