Summary about Disease
Moyamoya disease is a rare, progressive cerebrovascular disorder in which the internal carotid arteries in the brain become narrowed and blocked. This narrowing reduces blood flow to the brain. To compensate, the brain develops tiny, abnormal blood vessels (collateral vessels) at the base of the brain. These small vessels are fragile and prone to bleeding or blockage, leading to stroke-like symptoms. The term "moyamoya" means "puff of smoke" in Japanese and refers to the appearance of these tangled vessels on an angiogram.
Symptoms
Symptoms vary with age.
Children: Stroke or transient ischemic attacks (TIAs or "mini-strokes") are common. These can manifest as:
Weakness or paralysis on one side of the body
Speech difficulties
Seizures
Headaches
Involuntary movements
Adults: Hemorrhagic stroke (bleeding in the brain) is more common than in children. Other symptoms include:
Headaches
Seizures
Visual disturbances
Cognitive decline
Speech difficulties
Weakness or numbness
Causes
The exact cause of moyamoya disease is unknown in most cases (referred to as sporadic moyamoya disease). However, some risk factors and associations have been identified:
Genetics: There is a genetic component, and the RNF213 gene is strongly associated with the disease, particularly in Asian populations. It can run in families.
Associated Conditions: Certain conditions are associated with an increased risk, including:
Down syndrome
Neurofibromatosis type 1
Sickle cell anemia
Hyperthyroidism
Autoimmune diseases
Medicine Used
There is no medication that can reverse or cure Moyamoya disease. Medical management focuses on preventing stroke and managing symptoms. Medications may include:
Antiplatelet medications (e.g., aspirin): To prevent blood clots.
Calcium channel blockers: To help with headaches and potentially improve blood flow.
Antiseizure medications: To control seizures.
Management of associated conditions: such as blood pressure and other cardiovascular risk factors
Is Communicable
Moyamoya disease is not communicable. It is not caused by an infectious agent and cannot be spread from person to person.
Precautions
While moyamoya disease cannot be prevented, certain precautions can help manage the condition and reduce the risk of stroke:
Avoid dehydration: Drink plenty of fluids, especially during exercise or hot weather.
Avoid activities that may cause hyperventilation: such as blowing into musical instruments forcefully.
Avoid contact sports: To prevent head trauma.
Manage underlying conditions: such as hypertension, diabetes, and high cholesterol.
Regular medical follow-up: Adhere to the treatment plan and monitoring schedule prescribed by your doctor.
How long does an outbreak last?
Moyamoya disease is not an infectious outbreak. It is a chronic, progressive condition. Symptoms can appear suddenly (stroke-like events), but the underlying disease persists indefinitely. The progression of the disease and the occurrence of symptoms vary from person to person.
How is it diagnosed?
Diagnosis typically involves a combination of:
Neurological Examination: Assessment of symptoms and neurological function.
Magnetic Resonance Imaging (MRI) and Magnetic Resonance Angiography (MRA): To visualize the brain and blood vessels.
Cerebral Angiography (Catheter Angiogram): Considered the "gold standard" for diagnosis. A catheter is inserted into an artery and guided to the brain, where dye is injected, and X-rays are taken to visualize the blood vessels.
Computed Tomography (CT) and CT Angiography (CTA): May be used in some cases.
Transcranial Doppler (TCD) ultrasound: Can be used to assess blood flow in the brain.
Timeline of Symptoms
The onset and progression of symptoms can vary greatly.
Early Stages: May be asymptomatic or have mild, transient symptoms (TIAs).
Childhood: Usually presents with stroke-like symptoms, weakness, speech problems, or seizures.
Adulthood: Can present with stroke, hemorrhage, seizures, headaches, or cognitive decline.
Progression: Symptoms can become more frequent and severe over time if the disease is not managed.
Important Considerations
Early Diagnosis is Crucial: Early diagnosis and treatment are essential to prevent stroke and other complications.
Surgical Treatment: Surgical revascularization (bypass surgery) is often the primary treatment for moyamoya disease. This involves creating new blood vessels to bypass the blocked arteries and increase blood flow to the brain.
Lifelong Monitoring: Regular follow-up with a neurologist is necessary to monitor the condition and adjust treatment as needed.
Multidisciplinary Approach: Management often involves a team of specialists, including neurologists, neurosurgeons, radiologists, and rehabilitation therapists.
Support Groups: Joining a support group can provide emotional support and connect individuals with others who have moyamoya disease.