Moyamoya is the name given to a cerebral angiographic picture of bilateral intracranial carotid artery occlusion associated with telangiectatic vessels in the region of the basal ganglia. The Japanese word moyamoya means 'something hazy like a puff of cigarette smoke, drifting in the air.' Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults (summary by Suzuki, 1986).
Genetic Heterogeneity of Moyamoya Disease
The MYMY1 locus maps to chromosome 3p. See also susceptibility to moyamoya disease-2 (MYMY2; 607151), caused by variation in the RNF213 gene (613768) on chromosome 17q25; MYMY3 (608796), which maps to chromosome 8q23; MYMY5 (614042), caused by mutation in the ACTA2 gene (102620) on chromosome 10q23; MYMY6 with achalasia (615750), caused by mutation in the GUCY1A3 gene (139396) on chromosome 4q32; and MYMY7 (620687), caused by mutation in the ANO1 gene (610108) on chromosome 11q13.
See also MYMY4 (300845), an X-linked recessive syndromic disorder characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. [from
OMIM]