Genetic disease

- Chorea worse with walking
- Progressively dementia and inability to walk
- Psychiatric disturbances
- Possible systemic abnormalities such as cardiac failure, impaired glucose tolerance, osteoporosis

- MRI: caudate atrophy, rounding of frontal horns

- Autosomal dominant chromosome 4
- May present earlier in every subsequent generation

1. Tetrabenazine (inhibitor of vesicular monoamine transporter)
2. Antipsychotics
Prognosis: death within 15–20 years

- Dysarthria/ataxia/Parkinsonism
- Psychosis
- Systemic: eye deposits (brown Kayser–Fleischer ring at edge of cornea)/hepatitis/portal hypertension/hemolytic anemia

- Low blood levels of ceruloplasmin
- Low serum copper with elevated urine copper levels

- Autosomal recessive (chromosome 13)
- Copper accumulates in brain, eyes, liver

1. Diet modification
2. Penicillamine (may worsen neurological symptoms)/trientine hydrochloride/zinc
3. Possibly liver transplant
Prognosis is poor