Files are available under licenses specified on their description page. Brainrelated symptoms include tremors, muscle stiffness, trouble speaking, personality changes, anxiety. Symptoms are typically related to the brain and liver. The wilson atpase gene product of atp7b has two actions in the liver cell. The natural history of hepatolenticular degeneration has been summa rized by. Wilson s disease is a genetic disorder in which excess copper builds up in the body. Wilsons disease, ceruloplasmin, hepatolenticular degeneration. Progressive hepatolenticular degeneration, or wilsons disease, is a genetic disorder of copper metabolism. Esta entidad tambien llamada degeneracion hepatolenticular debe. A rare autosomal recessive disease characterized by the deposition of copper in the brain.
The patient is a 26 year old woman who began to evidence psychological symptoms, which were later accompanied by neurological manifestations such as asymmetrical hand tremor, parkinsonism, dystonia. Gabriel adrian, maryuri delgado, joyce gonzales, carlos orellana, miriam solis, jessica. All structured data from the file and property namespaces is available under the creative commons cc0 license. Wilsons disease is a genetic disorder in which excess copper builds up in the body. Autosomica dominante cromosoma 4 con anticipacion genetica expansion del trinucleotido cag mir 03, 53. Liverrelated symptoms include vomiting, weakness, fluid build up in the abdomen, swelling of the legs, yellowish skin and itchiness. Easl makes no warranty of any kind with respect to any translated guide. Temporal fenotipos clinicos y evolucion fundacio ace. Assignment of the gene for wilson disease to chromosome. This is a presentation of a clinical case of wilsons disease. Knowledge of the clinical presentations and treatment of the disease are important both. Palabras clave degeneracion hepatolenticular adolescente ceruloplasmina. Since costa rica reports the highest number of cases per population, essential.
1447 250 210 546 356 1326 1236 443 671 1441 594 578 1576 1443 393 38 211 1061 1531 6 1357 939 2 824 178 1426 1191 1178 24 418 522 1219 1006 1154 783 368 669 840