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.
Keywords
Wilson's disease - ceruloplasmin - copper - dysarthria - dystonia - tremor - parkinsonism
- movement disorders
