GeneHealth - Your precision medicine

Moyamoya Disease 5

Disease Details

Family Health Simplified

Buy Membership

Description: Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain, leading to the development of tiny, fragile blood vessels that can easily rupture.
Type: Moyamoya Disease 5 (MYMY5) is a hereditary disorder. The type of genetic transmission for Moyamoya Disease 5 is autosomal recessive.
Signs And Symptoms: Moyamoya Disease 5 (MMD5) is a rare, genetic form of moyamoya disease, often associated with mutations in the gene RNF213. This disease affects the blood vessels in the brain, leading to their narrowing and blockage.

Signs and symptoms of Moyamoya Disease 5 can include:
- Transient ischemic attacks (TIAs), often called mini-strokes
- Strokes
- Headaches
- Seizures
- Cognitive and developmental delays in children
- Hemiparesis (weakness on one side of the body)
- Disturbed consciousness
- Vision problems

These symptoms are due to reduced blood flow to the brain and the associated compensatory mechanisms the body employs, like the formation of fragile collateral vessels, which can be prone to bleeding.
Prognosis: Moyamoya disease is a progressive cerebrovascular disorder characterized by the narrowing of arteries at the base of the brain, leading to the formation of fragile collateral vessels. Prognosis can vary depending on the severity of the condition and the timeliness of intervention. With appropriate medical or surgical treatment, many patients can achieve a reduction in symptoms and improved quality of life. However, untreated moyamoya disease can lead to recurrent strokes, intellectual decline, and other serious complications. Regular monitoring and treatment are essential for managing the disease effectively.
Onset: Moyamoya disease 5 (MYMY5) typically has an onset in childhood, usually between the ages of 5 and 10. However, it can also present in adulthood, most commonly in the third or fourth decade of life.
Prevalence: Moyamoya disease (MMD) is a rare cerebrovascular condition characterized by stenosis or occlusion at the terminal portion of the internal carotid arteries and the development of abnormal vascular networks at the base of the brain. The prevalence of Moyamoya disease varies by region, being more common in East Asian countries such as Japan, Korea, and China. In Japan, the prevalence is estimated to be approximately 3 cases per 100,000 people. In Western countries, it is significantly lower, estimated at about 0.086 cases per 100,000 people. The term "nan" usually stands for "not a number," and it seems out of context here. If additional data or specific subgroup information is needed, please clarify.
Epidemiology: Moyamoya disease is a rare, progressive cerebrovascular disorder characterized by the narrowing or occlusion of arteries in the brain, particularly the internal carotid arteries and their main branches. This condition prompts the growth of small, fragile blood vessels to compensate for the reduced blood flow, creating a "puff of smoke" appearance on imaging—hence the name "moyamoya," which means "hazy, like a puff of smoke" in Japanese.

### Epidemiology:
- **Prevalence and Incidence**: Moyamoya disease is more prevalent in East Asian populations, particularly in Japan, Korea, and China. The incidence is estimated to be 0.35 to 0.94 per 100,000 people in these regions. In contrast, the disease is less common in Western countries, with an estimated incidence of 0.086 per 100,000 people in the United States.
- **Age Distribution**: It can affect individuals of all ages but has a bimodal age distribution, with peak incidences in children around 5-10 years old and in adults in their 30s to 40s.
- **Gender Predilection**: Females are affected about twice as often as males.
- **Genetic Factors**: There is a familial tendency, suggesting a genetic component. Certain genetic mutations, such as those in the RNF213 gene, have been linked to increased susceptibility, particularly in East Asian populations.

Understanding the epidemiology of moyamoya disease helps in early diagnosis and management, reducing the risk of severe complications like stroke.
Intractability: Moyamoya disease is often considered intractable because it leads to a progressive and chronic cerebrovascular condition characterized by the narrowing and eventual occlusion of the brain's blood vessels. This results in the formation of abnormal collateral vessels, which can cause recurrent strokes, transient ischemic attacks, and other neurological deficits. While there are surgical interventions, such as revascularization procedures, that can improve blood flow and reduce stroke risk, there is no cure for the underlying disease. Management primarily focuses on symptomatic relief and prevention of complications.
Disease Severity: Moyamoya disease is a progressive cerebrovascular disorder characterized by the narrowing and blockage of arteries at the base of the brain. The severity of the disease can vary widely among individuals. It can lead to recurrent strokes or transient ischemic attacks (TIAs), progressive brain function deterioration, and other complications. The severity is generally assessed based on the frequency and severity of these events, as well as the extent of vascular abnormalities observed through imaging studies. There is no single severity scale, and clinical evaluation is tailored to each patient’s specific condition.
Pathophysiology: Moyamoya disease is a rare, progressive cerebrovascular disorder characterized by the narrowing and blockage of arteries at the base of the brain, specifically the internal carotid arteries and their main branches. This condition leads to the development of a network of tiny blood vessels in an attempt to bypass the blockage, which can appear like a "puff of smoke" on imaging studies. The formation of these collateral vessels is insufficient for adequate blood flow, increasing the risk of transient ischemic attacks (TIAs), strokes, and hemorrhages. The exact cause of moyamoya disease is unknown, but genetic factors are believed to play a significant role, and it is more prevalent in certain populations, especially in East Asian countries.
Carrier Status: Moyamoya disease 5 (MYMY5) is typically inherited in an autosomal dominant manner. Carrier status for MYMY5 does not generally apply in the same context as it does for autosomal recessive conditions since even one copy of the altered gene can lead to disease manifestation.
Mechanism: Moyamoya disease (Moyamoya disease 5) is a progressive cerebrovascular disorder characterized by stenosis or occlusion of arteries at the base of the brain, particularly the internal carotid arteries and their main branches. This is accompanied by the development of a network of tiny blood vessels that resemble a "puff of smoke" in imaging studies.

### Mechanism
The primary mechanism involves progressive narrowing and eventual occlusion of the internal carotid arteries and their main branches, leading to reduced blood flow to the brain. In response to ischemia, the brain tries to compensate by forming abnormal small vessels, which appear fragile and prone to bleeding.

### Molecular Mechanisms
1. **Genetic Factors:** Several genetic mutations have been linked to Moyamoya disease, including RNF213, which is considered a significant susceptibility gene, particularly in East Asian populations. Mutations in this gene may affect vascular development and integrity.

2. **Inflammatory Pathways:** Chronic inflammation and autoimmune responses may play roles in endothelial dysfunction and vascular changes. Increased levels of inflammatory cytokines and evidence of immune complex deposition have been noted.

3. **Endothelial Cell Dysfunction:** Abnormalities in endothelial cells, which line blood vessels, contribute to vessel stenosis and occlusion. Reduced endothelial nitric oxide synthase (eNOS) activity and impaired production of nitric oxide (NO) may be involved.

4. **Angiogenic Factors:** Dysregulation of angiogenic factors like vascular endothelial growth factor (VEGF) may promote the formation of the abnormal moyamoya vessels. However, these collateral vessels are often weak and inefficient.

Understanding these molecular mechanisms is crucial for developing targeted therapies to manage or possibly cure Moyamoya disease.
Treatment: The treatment for Moyamoya Disease typically involves surgical options aimed at improving blood flow to the brain. Common surgical procedures include:

1. **Direct Revascularization**: Procedures like **superficial temporal artery to middle cerebral artery (STA-MCA) bypass**, where a blood vessel from outside the skull is connected to a blood vessel inside the skull to improve blood flow.

2. **Indirect Revascularization**: Techniques such as:
- **Encephaloduroarteriosynangiosis (EDAS)**: Suturing a branch of the scalp artery to the surface of the brain.
- **Encephalomyosynangiosis (EMS)**: Placing a muscle on the brain surface to encourage new blood vessels to form.
- **Multiple Burr Holes**: Creating small holes in the skull to encourage new blood vessel formation from the outer layers of the brain.

Additional treatments may include medications to manage symptoms or reduce the risk of stroke, such as **antithrombotic agents** (e.g., aspirin) and **calcium channel blockers** to alleviate headaches and other neurological symptoms. Regular follow-ups and imaging studies are crucial to monitor disease progression and treatment efficacy.
Compassionate Use Treatment: Moyamoya disease is a progressive cerebrovascular disorder caused by blocked arteries at the base of the brain. For Moyamoya disease, especially type 5, there are several compassionate use, off-label, or experimental treatments considered in severe cases where standard therapies are ineffective.

1. **Compassionate Use Treatments:**
- **Surgical Revascularization:** This includes direct (e.g., STA-MCA bypass) and indirect (e.g., encephaloduroarteriosynangiosis or EDAS) procedures to restore blood flow to the brain.
- **Medications:** Although not standard, medications to manage symptoms or secondary conditions (e.g., antiplatelet agents like aspirin) are sometimes used compassionately.

2. **Off-label Treatments:**
- **Calcium Channel Blockers:** Drugs such as nimodipine, used to prevent vasospasm and improve blood flow.
- **Statins:** Used for their potential neuroprotective effects and to manage associated atherosclerosis.

3. **Experimental Treatments:**
- **Cell-based Therapies:** Research on stem cell therapy to promote angiogenesis and restore cerebral blood flow is ongoing.
- **Gene Therapy:** Investigational studies on gene therapy to address genetic factors contributing to Moyamoya disease.

These treatments are considered when conventional approaches do not yield results and when patients have exhausted other options, often in clinical trial settings or under special access programs. Always consult with a healthcare professional specializing in Moyamoya disease for personalized medical advice.
Lifestyle Recommendations: For patients with Moyamoya disease, lifestyle recommendations generally focus on reducing the risk of stroke and supporting overall vascular health. These recommendations may include:

1. **Regular Medical Check-ups**: Regular consultations with healthcare providers to monitor the condition and adjust treatments as needed.
2. **Medication Adherence**: Compliance with prescribed medications such as antiplatelet agents to prevent blood clots.
3. **Blood Pressure Management**: Maintaining appropriate blood pressure levels to reduce stress on blood vessels.
4. **Healthy Diet**: Following a balanced diet low in saturated fats and high in fruits, vegetables, and whole grains to promote vascular health.
5. **Regular Exercise**: Engaging in moderate physical activity to improve cardiovascular health, while avoiding strenuous activities that could increase the risk of stroke.
6. **Stress Reduction**: Employing stress management techniques such as meditation, yoga, or other relaxation methods.
7. **Avoiding Smoking and Excessive Alcohol**: Eliminating smoking and limiting alcohol intake to improve overall cardiovascular health.
8. **Hydration**: Ensuring adequate hydration to maintain blood flow and reduce the risk of thrombosis.
Medication: Moyamoya disease (moyamoya disease 5 or MYMY5) often requires a multifaceted approach for management. While there is no specific medication to cure the disease, treatment focuses on managing symptoms and preventing complications such as strokes or transient ischemic attacks (TIAs). Commonly used medications include:

1. **Antiplatelet agents**: Such as aspirin, to reduce the risk of blood clots and subsequent strokes.
2. **Calcium channel blockers**: Such as nimodipine, to help prevent headaches and reduce vascular constriction.
3. **Anticoagulants**: Such as heparin or warfarin, in some cases, although their use is more controversial and requires careful monitoring.

Always consult a healthcare professional for individualized treatment options.
Repurposable Drugs: There are currently no established repurposable drugs specifically for moyamoya disease 5. Treatment primarily focuses on surgical revascularization procedures to restore blood flow to affected brain areas. Various medications might be used to manage symptoms and prevent complications, such as antiplatelet agents to reduce stroke risk, but they are not specific to moyamoya disease 5.
Metabolites: For moyamoya disease 5, specific metabolites significantly altered in the context of the disease are not well-documented in the existing literature. Moyamoya disease primarily involves progressive stenosis of the cerebral arteries, leading to the development of collateral vessels. However, metabolic changes at the cellular or systemic level specific to this condition are not comprehensively detailed. It is important to focus on clinical diagnostics, imaging findings, and genetic factors in understanding and managing the disease.
Nutraceuticals: Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain. There is limited evidence to support the use of nutraceuticals specifically for Moyamoya disease. Nutraceuticals are products derived from food sources that provide health benefits in addition to their basic nutritional value, but their efficacy and safety for Moyamoya disease are not well-established through clinical trials. Patients are advised to follow medical and surgical treatments as recommended by healthcare professionals.
Peptides: Moyamoya disease-5 (MYMY5) is a genetic form of Moyamoya disease associated with mutations in the RNF213 gene. There is no established treatment involving peptides specifically for MYMY5. The use of nanoparticles (nan) as a therapeutic or diagnostic tool in Moyamoya disease, including MYMY5, is an area of ongoing research, but no definitive treatments are available yet.