En sällsynt, autosomalt recessiv sjukdom, vars kännetecken är avlagring av koppar i hjärnan, levern, hornhinnan och andra organ. Kliniska symtom är skrumplever, leversvikt, förstorad mjälte, skakningar, långsamma rörelser, talrubbningar, okontrollerade rörelser, muskelstelhet, Kayser-Fleischerringar (ringformig missfärgning i hornhinnans kanter), ataxi (rubbad muskelkoordination) och intellektuell försämring. Leversvikt kan sätta in flera år före neurologiska störningar.
A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.
Wilsons sjukdom — Pseudoskleros
Degeneration, Hepatolenticular — Pseudosclerosis — Wilson Disease — Wilson's Disease — Wilsons Disease — Cerebral Pseudosclerosis — Cerebral Pseudoscleroses — Pseudoscleroses, Cerebral — Pseudosclerosis, Cerebral — Hepatolenticular Degeneration Syndrome — Degeneration Syndrome, Hepatolenticular — Degeneration Syndromes, Hepatolenticular — Hepatolenticular Degeneration Syndromes — Syndrome, Hepatolenticular Degeneration — Syndromes, Hepatolenticular Degeneration — Hepato-Neurologic Wilson Disease — Diseases, Hepato-Neurologic Wilson — Hepato Neurologic Wilson Disease — Hepato-Neurologic Wilson Diseases — Wilson Disease, Hepato-Neurologic — Wilson Diseases, Hepato-Neurologic — Hepatocerebral Degeneration — Degeneration, Hepatocerebral — Degenerations, Hepatocerebral — Hepatocerebral Degenerations — Kinnier-Wilson Disease — Diseases, Kinnier-Wilson — Kinnier Wilson Disease — Kinnier-Wilson Diseases — Westphal-Strumpell Syndrome — Westphal Strumpell Syndrome — Westphal-Strumpell Syndromes — Copper Storage Disease — Copper Storage Diseases — Disease, Copper Storage — Diseases, Copper Storage — Storage Disease, Copper — Storage Diseases, Copper — Progressive Lenticular Degeneration — Degeneration, Progressive Lenticular — Lenticular Degeneration, Progressive — Neurohepatic Degeneration — Degeneration, Neurohepatic — Degenerations, Neurohepatic — Neurohepatic Degenerations — Hepatic Form of Wilson Disease — Wilson Disease, Hepatic Form