に定義されています neuroacanthocytosis

Neuroacanthocytosis (also known as Levine-Critchley syndrome or chorea-acanthocytosis) is a rare movement disorder marked by progressive muscle weakness and atrophy, progressive cognitive loss, chorea (involuntary twisting movements of the body), and acanthocytosis (spiked red blood cells associated with several inherited neurological disorders). よりたくさんの

Neuroacanthocytosis (also known as Levine-Critchley syndrome or chorea-acanthocytosis) is a rare movement disorder marked by progressive muscle weakness and atrophy, progressive cognitive loss, chorea (involuntary twisting movements of the body), and acanthocytosis (spiked red blood cells associated with several inherited neurological disorders). Other symptoms include facial tics, uncontrolled muscle movement, instability when walking, seizures, biting of the tongue and lips and changes in personality, comprehension and judgment. The disorder is due to degeneration of the basal ganglia (a part of the brain that helps control movement) and loss of neurons in the brain and spinal cord. Neuroacanthocytosis has adult and childhood varieties. In adults, onset of classic symptoms is usually begins between ages 20 and 50, while in children onset is typically seen in adolescence (but may occur earlier). Adult varieties can involve the heart and immune system. Neuroacanthocytosis is typically an inherited autosomal recessive disorder and is more common in males than in females. Some types of neuroacanthocytosis have been found to be caused by specific gene defects. Parkinsonism has been associated with the disorder in some patients. less