Research is essential for rare conditions like moyamoya disease, which is a disorder that affects the function of blood vessels in the brain. While the disease is often acquired, genetic factors can also contribute to its development.
Like many rare health conditions, the cause of moyamoya disease is not completely understood. However, research indicates that genes can sometimes play a role in the development of the disorder.
Studies are ongoing regarding specific genes that are involved in moyamoya disease, and researchers believe that the RNF213 gene plays a role. While not much is known about this gene, it is believed that it contributes to the formation of blood vessels. Testing is encouraged when more than one family member experiences the disorder.
Moyamoya syndrome is similar to moyamoya disease in that it contributes to changes within the vessels of the brain. With moyamoya syndrome, the risk of the condition increases with certain medical disorders, including sickle cell disease, Down syndrome, hyperthyroidism, and neurofibromatosis type 1, which is a genetic disorder affecting nerve tissue and skin pigment.
This disorder is most prevalent in children and often causes symptoms between the ages of 5 and 10. Adults can also experience moyamoya disease, and symptoms usually occur between the ages of 30 and 50 when the condition happens during adulthood.
With children, the first indication of moyamoya may be a transient ischemic attack or stroke, both of which constitute medical emergencies. In adults, symptoms like headaches, problems speaking, vision issues, seizures, and involuntary movements can signal a problem.
These symptoms require immediate assessment by a medical professional. They can perform diagnostic testing, such as MRIs, to determine whether vascular changes have occurred in the brain.