Diagnostics of Wilson's disease

Wilson's disease is a rare genetic but treatable metabolic disorder which has a favorable prognosis when diagnosed early and treated adequately. Therefore, knowledge of this rare clinical condition and a reliable diagnosis are indispensable. The diagnostic work-up is initiated in cases of unexplained acute or chronic liver disease and/or an extrapyramidal motor disturbance occurring mostly between the 5th and 45th years of life. Manifestations with initial symptoms have occasionally been observed at an age younger than 1 year and later than 70 years. Immediate biochemical and genetic examinations for early diagnosis are essential. Further test methods, such as liver and transcranial sonography, cerebral magnetic resonance imaging (MRI) and F-18-fluorodeoxyglucose positron emission tomography (F-18-FDG-PET), I-123-beta-CIT and I-123-iodobenzamide (IBZM) single photon emission computed tomography (SPECT), electrophysiology as well as fine motor tests are unspecific but can be used to test for organ damage and for monitoring of progress. Immediate initiation of a therapy is required and justified on the basis of a confirmed diagnosis.