2013 ASHG: The Genetic Landscape of Moyamoya Disease in a Multi-Ethnic Cohort

What is Moyamoya Disease? Moyamoya Disease (MMD) is a rare cerebrovascular disease typically displaying a dominant low-penetrance mode of inheritance. “Moyamoya” means “puff of smoke” in Japanese, and in the context of MMD, it refers to abnormal vessels, which appear as a cloud of smoke in cerebral angiograms, resulting from progressive occlusion of the vessels of the Circle of Willis . The Moyamoya vessels are prone to hemorrhage and aneurism, and can lead to transient ischemic attacks, devastating strokes, headaches, paralysis, and other neurological symptoms. MMD is treatable by direct revascularization (STA-MCA bypass), which has greater than 95 percent graft patency and excellent long-term outcomes.