Wilson’s Disease with Dystonia
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Wilson’s disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, resulting in abnormal copper metabolism with toxic accumulation of copper. Clinical manifestations vary considerably. It has been said that “there is only one thing which all these patients have in common, apart from the Kayser-Fleischer ring, and that is that they are all different.” Since treatment can cure Wilson’s disease, early disease recognition is of paramount importance as it can lead to the initiation of appropriate and effective therapy. Wilson’s disease should be considered in adolescents and adults younger than age 40 with the following features: (1) elevated liver enzymes found incidentally or in the context of an acute episode of hepatitis; (2) dysphagia or dysarthria not explained by another neurological disorder; (3) any type of unexplained movement disorder; (4) psychiatric symptoms with liver disease; (5) adolescents with mood disorders and minor elevation of liver transaminase; (6) Coombs-negative hemolytic anemia; and (7) unexplained liver cirrhosis or hepatic failure.
KeywordsMood Disorder Elevated Liver Enzyme Autosomal Recessive Disorder Liver Transaminase Focal Dystonia
Wilson's Disease w. dystonia.mp4 (MP4 16,265KB)
The patient exhibits a risus sardonicus. There is generalized dystonia including predominant jaw-opening dystonia. His speech is dysarthric. There is dystonic posturing of the hands and toes. Both legs are dystonic and spastic with brisk reflexes.