Moyamoya Disease

Moyamoya disease (MMD) is a primary cerebrovascular disorder characterized by progressive stenosis and eventual occlusion of the bilateral intracranial internal carotid arteries and their proximal branches. Resultant tissue ischemia leads to compensatory development of abnormally dilated and fragile collateral vessels that appear on cerebral angiography as a “puff of smoke” (Japanese, moyamoya). MMD is one of the most frequent causes of pediatric stroke. The progressive nature of MMD requires early diagnosis to optimize selection of patients for surgery, which is the only currently effective disease treatment.

Genetic factors play a substantial role; 10% of Japanese patients have affected first-degree relatives, as do 6% of patients in the US. Gaps in our understanding of MMD pathogenesis impede the development of preventive, diagnostic, and therapeutic strategies. Our team is determined to uncover the genetic causes of MMD and improve the lives of patients. Affected individuals and their families are welcomed and encouraged to participate!