Moyamoya Disease: Epidemiology, Clinical Characteristics, Diagnosis, Physiopathology, and Treatment

Moyamoya disease (MMD), a chronic and occlusive cerebrovascular disorder, is characterized by progressive bilateral terminal stenosis or occlusion of the internal carotid arteries, accompanied by the formation of abnormal collateral vascular networks at the base of the brain. It is more prevalent in East Asia, with regional variation in China.

The clinical features of MMD differ significantly between children and adults. Most children with MMD experience cerebral ischemia, while most adult patients develop intracranial hemorrhage. Our understanding of MMD has advanced considerably. Recent advances indicate that MMD arises from a complex interplay of genetic predisposition, immune dysregulation, and abnormal angiogenesis. RNF213 has been identified as the major genetic determinant contributing to MMD susceptibility. However, issues still existed in diagnosis and treatment, including atypical early symptoms, a lack of specific diagnostic tools, and unclear indications for surgical treatment.

MMD is a heterogeneous disease with distinct age-related clinical patterns and a strong genetic component. Advances in imaging and genetics are expanding our understanding. Future studies integrating genomics, immune biology, and angiogenesis research may enable biomarker discovery, precision risk stratification, and the development of disease-modifying treatments to improve long-term outcomes.