Abstract and Introduction
Abstract
As Wilson's disease is both preventable and treatable, the diagnosis must not be missed. Despite this, it is usually misdiagnosed. Misdiagnosis and delay in treatment are clinically relevant because if left untreated, Wilson's disease progresses to hepatic failure or severe neurologic disability, and death. Those adequately treated have a normal life span. Wilson's disease is an autosomal recessive disease caused by mutations in the ATP7B gene. Mutations in ATP7B result in abnormal copper metabolism and subsequent toxic accumulation of copper. The clinical manifestations of neurologic Wilson's disease include variable combinations of dysarthria, dystonia, tremor, parkinsonism, ataxia, and choreoathetosis. Once the possibility of Wilson's disease is considered, diagnosis is straight forward. Currently available treatments, including zinc acetate and trientine, are generally well tolerated and effective.
Introduction
As Wilson's disease is both preventable and treatable, its diagnosis must not be missed. Wilson's disease is an autosomal recessive disease caused by mutations in the ATP7B gene that results in the toxic accumulation of copper. Common initial neurologic manifestations include dysarthria, dystonia, abnormal gait, tremor, parkinsonism, and chorea or athetosis. The most useful diagnostic screening procedure is a 24-hour urine copper test. Wilson's disease is a condition that can be effectively treated.
Semin Neurol. 2012;32(5):538-543. © 2012 Thieme Medical Publishers
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