Genomic coordinate (human 11:2,163,931 TH).
Cytoband (human 11p15.5 TH).
Here I present: “Segawa-Recessive Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (TH).
Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive dystonia. There are 2 main phenotypes: one is a severe complex encephalopathy apparent in the perinatal period, with diurnal fluctuations and autonomic disturbances, and the other shows a less severe course with onset in the first year of life of a progressive hypokinetic-rigid syndrome and generalized dystonia. The less severe type shows a better response to levodopa compared to the more severe type.
