Wilson’s Disease

Abstract

Wilson’s disease (WD) is an autosomal recessive metabolic disorder of impaired copper transport and excretion. Copper overload leads to tissue toxicity from elevated levels of free or non-ceruloplasmin-bound copper. The liver and brain are the two major organs that are affected in WD. Copper overload can be effectively treated with reversal of neurologic or liver symptoms if the therapy is initiated carefully in a timely fashion. Recognition of WD is complicated by the very nonspecific presentations of neurologic symptoms. Patients may exhibit variable combinations of tremor, dystonia, parkinsonism, chorea, or ataxia. Consequently, early diagnosis of WD is critical to successful treatment. Available therapies include chelators such as penicillamine and trientine and zinc salt. A considerable proportion of patients with neurologic WD experience paradoxical worsening with catastrophic functional consequences. Irreversible severe dystonia or status dystonicus may be observed, a true life-threatening movement disorder emergency.