Clinical Reference · Movement Disorders

Wilson DiseaseTreatable

The treatable copper-overload disease — don't miss it in a young movement disorder
Illustration of a young patient with wing-beating tremor
Wing-beating tremor
AR copper · TREATABLE
GeneATP7B · 13q
MechanismImpaired biliary copper excretion →
copper in liver, brain, cornea
InheritanceAutosomal recessive
Onset5–35 yrs (hepatic young; neuro in teens/20s)
A young patient with a movement disorder, liver disease and Kayser-Fleischer rings — and it's treatable.
Key clinical features
  • Wing-beating tremor, dysarthria
  • Dystonia, parkinsonism, ataxia
  • Risus sardonicus (fixed grimace)
  • Psychiatric & cognitive change
  • Liver disease (any young hepatitis)
  • Kayser-Fleischer rings
◆ Signature clue

Young movement disorder + Coombs-negative hemolytic anemia / liver disease + KF rings + low ceruloplasmin → Wilson. Midbrain “face of the giant panda” sign.

Diagnosis
Low ceruloplasmin, ↑ 24-h urinary copper, KF rings (slit-lamp), ↑ hepatic copper; ATP7B testing.
Management
Trientine preferred first-line for neuro Wilson (penicillamine can worsen neuro early); zinc for maintenance; low-copper diet; transplant if fulminant.
Board pearlThe don't-miss treatable one — screen ceruloplasmin + KF rings in ANY young movement disorder. Trientine is preferred over penicillamine in neurologic Wilson.
Sources: Neuro.Wiki › Movement Disorders / Wilson Disease. Educational reference — not a substitute for clinical judgment. Neuro.Wiki