Moyamoya Disease: Physiological Mechanisms and Treatment Approaches

Moyamoya disease (MMD) is a rare, progressive cerebrovascular disorder marked by stenosis of the terminal internal carotid arteries and the formation of fragile collateral vessels, leading to reduced cerebral perfusion and heightened risks of ischemic and hemorrhagic strokes. Its pathophysiology involves endothelial dysfunction, aberrant angiogenesis, and genetic mutations, notably in the RNF213 gene. This paper examines normal cerebrovascular physiology, the pathological changes driving MMD, its clinical features, and current therapeutic approaches. Treatments, including medical management and surgical revascularization (e.g., direct and indirect bypass), aim to restore cerebral blood flow and mitigate stroke risk, with revascularization proving most effective. Elucidating the physiological underpinnings of MMD is vital for developing targeted therapies and enhancing patient outcomes.