Moyamoya disease is a rare cerebrovascular disorder characterized by progressive narrowing of the internal carotid arteries, leading to the development of small, fragile collateral vessels at the base of the brain. This can cause mini strokes (known as Transient Ischemic Attacks) and also cause bleeding in the brain.

Moyamoya can affect how the brain functions and create cognitive & developmental delays, as well as potential disability. Although the disease may occur at any age, symptoms are commonly found in children aged 5 to 10, and adults aged 30 to 50.

This condition manifests through various neurological symptoms, many of which overlap with other diseases. Understanding these shared symptoms can aid in differential diagnosis and highlight potential links between Moyamoya disease and other conditions.

Exploring & Understanding Moyamoya Disease

The exact cause of Moyamoya is currently unknown. Certain risk factors may increase chances of suffering from the disease

Most complications from Moyamoya are associated with the effects of strokes

This includes seizures, paralysis, vision problems, speech problems, developmental delays and movement disorders

Risk Factors Include

  • Asian Heritage, as it’s most commonly found in East Asian populations

  • Family History, between 6 to 12 percent of patients with Moyamoya disease have a family history of the condition

  • Medical Conditions, Moyamoya Syndrome sometimes occurs along with other disorders such as sickle cell, down syndrome and more

  • Female at Birth, as it occurs more often in women than men for unknown reasons, although the gene RNF213 is associated with Moyamoya in women

  • Age, although a person of any age can have Moyamoya, children are most commonly affected

There is no cure at this time, but treatment can help to reduce symptoms, as well as improve the brain’s blood flow and lower risks of complications

Symptoms

  • Frequent Headaches

  • Strokes

  • Transient Ischemic Attacks (TIA)

  • Seizures

  • Vision Problems

  • Involuntary Movements

  • Aphasia

  • Numbness & Weakness

  • Developmental Delays

  • Balance Issues

Diagnosis

  • MRI

  • Perfusion MRI

  • CT Scan

  • Cerebral Angiogram

  • PET Scan

  • SPECT Scan

  • EEG Monitors

  • Transcranial Doppler Ultrasound

Treatment Options

  • Blood Thinners

  • Calcium Channel Blockers

  • Anti-Seizure Medications

  • Direct Revascularization Surgery

  • Indirect Revascularization Surgery

Overlapping Symptoms with Other Diseases

    • Migraines

    • Brain Tumor

    • Atherosclerosis

    • Sickle Cell Disease

    • Epilepsy

    • Cerebral Palsy

    • Multiple Sclerosis

    • Diabetic Retinopathy

    • Optic Nerve Head Abnormalities

    • ADD/ADHD

    • Executive Functioning Impairment

    • Working Memory Impairment

    • Spatial Imagination Impairment

    • Aphasia

    • Autism

    • Down Syndrome

    • Sickle Cell Anemia

    • Neurofibromatosis Type 1

  • Shared Symptoms:

    • Episodes of numbness and weakness in one or both sides of the body

    • Developmental delays

    • Cognitive impairment

    • Issues with balance and involuntary movement

    • Seizures

    Distinguishing Factors:

    • AHC is caused by mutations in the ATP1A3 gene, whereas some research indicates Moyamoya is a mutation in the ACTA2 gene

    • Symptoms of AHC manifest anywhere from as early as 3 to 18 months in children, while Moyamoya can manifest at any age