Overview
Moyamoya disease is a rare blood vessel disorder in which the carotid artery in the skull becomes blocked or narrowed, leading to reduced blood flow to the brain. This condition can cause ministrokes, known as transient ischemic attacks (TIAs), or strokes. Moyamoya disease can also cause bleeding in the brain, known as a hemorrhagic stroke. The exact cause of Moyamoya disease is unknown, but it is believed to have genetic factors and may be associated with certain conditions such as neurofibromatosis type 1, sickle cell disease, and Down syndrome. Symptoms may include headaches, seizures, weakness or numbness on one side of the body, vision problems, difficulty speaking, cognitive or developmental delays, and involuntary movements. Early detection and treatment are crucial to prevent complications and reduce the risk of permanent brain damage.
Understanding the disease
Symptoms
The symptoms of moyamoya disease include headache, seizures, weakness or numbness in the face, arm, or leg (typically on one side of the body), vision problems, difficulty speaking or understanding others (aphasia), cognitive or developmental delays, and involuntary movements. These symptoms can occur in both children and adults, but adults may also experience bleeding in the brain (hemorrhagic stroke) in addition to the other symptoms. Moyamoya disease is a rare blood vessel disorder that can lead to reduced blood flow to the brain.
Risk Factors
Risk factors for developing moyamoya disease include:
- Asian heritage: Moyamoya disease is more common in East Asian countries like Korea, Japan, and China, possibly due to genetic factors in those populations.
- Family history: Having a family member with moyamoya disease increases your risk by 30 to 40 times compared to the general population, indicating a strong genetic component.
- Medical conditions: Moyamoya syndrome can occur in association with other disorders, such as neurofibromatosis type 1, sickle cell disease, and Down syndrome, among others.
- Being female: Women have a slightly higher incidence of moyamoya disease.
- Being young: Children younger than 15 years old are most commonly affected by moyamoya disease.
Development
Moyamoya disease is a rare blood vessel disorder that can occur due to genetic or environmental factors. It is more commonly seen in East Asian countries, such as Korea, Japan, and China, which suggests a possible genetic predisposition in certain populations. The condition leads to blockages or narrowing of the carotid artery, reducing blood flow to the brain and causing complications like strokes, seizures, paralysis, and vision problems. Moyamoya syndrome is another condition that can have similar symptoms but is caused by vascular changes, which may have different underlying causes and associations with other medical conditions like neurofibromatosis type 1, sickle cell anemia, and Down syndrome.
Assessment and Diagnosis
Triage
You should see a doctor if you suspect moyamoya disease or if you experience any of the symptoms such as headache, seizures, weakness, numbness, vision problems, difficulty speaking, cognitive or developmental delays, or involuntary movements. Early detection and treatment can help prevent complications such as stroke and serious brain damage.
Diagnosis
To diagnose moyamoya disease, a neurologist specializing in the condition will review your symptoms, family and medical history, and perform a physical exam. Several tests may be conducted, including magnetic resonance imaging (MRI), magnetic resonance angiogram, perfusion MRI, positron emission tomography (PET), single-photon emission computerized tomography (SPECT), electroencephalogram (EEG), and transcranial Doppler ultrasound.
Management and Treatment
Complications
The potential complications of moyamoya disease include seizures, paralysis, vision problems, speech problems, movement disorders, and developmental delays. Moyamoya disease can cause serious and permanent damage to the brain, particularly due to the effects of strokes.
Treatment
Treatments for moyamoya disease primarily focus on addressing the cause of the blocked or narrowed blood vessels and improving blood flow to the brain. Treatment options may include:
- Surgery: Two common surgical procedures for moyamoya disease are revascularization procedures and encephaloduroarteriosynangiosis (EDAS). These surgeries aim to create new blood vessels or improve blood flow to the brain. They are typically performed in children and can be effective in preventing strokes and reducing symptoms.
- Medications: Some medications may be prescribed to manage symptoms and prevent complications. These may include anti-seizure medications to control seizures, blood thinners to prevent blood clots, and medications to manage high blood pressure.
- Lifestyle modifications: Depending on the underlying cause of the condition, lifestyle modifications may be recommended to help manage and prevent symptoms. This may include controlling risk factors for conditions like high blood pressure, diabetes, or sickle cell anemia. It's important to consult with a healthcare provider or specialist experienced in treating moyamoya disease for personalized treatment recommendations.
Preparing for medical consultation
To prepare for an appointment for moyamoya disease, you should:
- Note any previous treatments for heart or brain issues. Include medications, surgeries, or procedures you've had.
- Be aware of any pre-appointment restrictions. When you schedule the appointment, ask if there's anything you need to do in advance, such as fill out forms or restrict your diet for specific tests.
- Write down any symptoms you're experiencing, including those that may seem unrelated to moyamoya disease. Try to recall when they began, using specific timeframes.
- Record key personal information, such as changes in your sex life or menstrual cycle for women.
- Create a list of all medications, vitamins, and supplements you're taking.
- Bring old photographs that your doctor can use for comparison. This can be especially helpful for tracking changes in your appearance over time.
- Consider bringing a family member or friend to help remember important details and provide additional support.
- Prepare a list of questions to ask your doctor during the appointment. Remember to be open and honest with your healthcare provider about your concerns and symptoms, and don't hesitate to ask any questions that may arise during the appointment.