Diagnosing Moyamoya Disease

Overview

Moyamoya disease is a rare cerebrovascular disorder characterized by the progressive blockage of arteries at the base of the brain, specifically in the basal ganglia area. Specialists involved in diagnosing Moyamoya disease include neurologists and other healthcare providers. To diagnose Moyamoya disease, several examinations, screening tests, and procedures may be performed. These include:

• Physical examination: During a physical exam, the healthcare provider will look for physical signs of a medical problem.
• Medical history review: The healthcare provider will review your symptoms and your family's medical history. This helps them understand any genetic factors that may contribute to Moyamoya disease.
• Diagnostic imaging studies: Doctors use various imaging studies to view the blood vessels in the brain and measure blood supply to the brain. Imaging studies can help doctors identify any narrowing or blockage in the blood vessels characteristic of Moyamoya disease. These imaging tools include:
  • Cerebral angiogram: This test involves injecting a contrast dye into the blood vessels of the brain and taking X-rays to visualize any abnormalities.
  • Computerized tomography (CT) scan: A CT scan uses X-rays and computer technology to create detailed images of the brain.
  • Magnetic resonance imaging (MRI): An MRI uses magnetic fields and radio waves to produce detailed images of the brain.
  • Positron emission tomography (PET) scan: A PET scan uses a small amount of radioactive material to visualize brain activity.
  • Transcranial doppler ultrasound: This non-invasive test uses sound waves to measure blood flow in the brain.
• Lab tests: Laboratory tests may be ordered to check samples of your blood, urine, or body tissues. These tests can help diagnose Moyamoya disease and rule out other conditions. The specific lab tests ordered will depend on your symptoms and the diseases being considered.
• Genetic testing: Since Moyamoya disease is considered a genetic disease, genetic testing may be recommended by your healthcare team. Genetic tests use samples like blood or saliva to identify changes in genes, chromosomes, or proteins. This can help confirm or rule out a suspected genetic disease.
• Additional procedures: Clinical procedures may also be recommended to make a diagnosis or evaluate the severity of Moyamoya disease. These clinical procedures can include various tests depending on which part of the body is being evaluated. Examples of clinical procedures include hearing tests and electroencephalograms (EEGs).

It's important to note that only healthcare professionals can accurately diagnose Moyamoya disease based on these examinations, tests, and procedures. If you suspect you have this condition or have any concerns, it is crucial to consult with your healthcare provider for an accurate diagnosis and appropriate treatment options.