Wilson's disease
Hepatolenticular degeneration syndrome
Wilson's disease is a rare genetic disorder in which copper accumulates in the body, particularly in the liver and brain.
Without treatment, the buildup causes liver damage, neurological problems, and psychiatric symptoms.
Named for the British neurologist who described it in 1912.
Also called hepatolenticular degeneration.
Irreversible hepatic scarring
- hepatitisInflammatory liver condition
- jaundiceYellowing from bile pigment
- fibrosisPathological connective tissue buildup
- hepatomegalyPathological liver enlargement
liver transplant · liver biopsy · bilirubin · albumin · ascites · cholestasis
Movement disorder causing postures
- parkinsonismMotor syndrome with tremor, rigidity
- tremorInvoluntary rhythmic shaking
- dysarthriaMotor speech muscle disorder
- dysphagiaMedical swallowing difficulty
ataxia · chorea · rigidity · drooling · gait disturbance · cognitive impairment · speech therapy · physical therapy
Rules governing permissible eating
- liver transplantSurgical organ replacement
- vitamin EFat-soluble antioxidant nutrient
- antioxidantsSubstances counteracting oxidative damage
- monitoringOngoing observation of something
Permanent DNA alteration
- hereditaryPassed through generations
- allelesVariant forms of genes
- genotypeOrganism's complete allele set
- phenotypeObservable characteristics of organism
penetrance · consanguinity · pedigree · genetic counseling · gene therapy · heterozygote · homozygote
Prolonged low state
- anxietyPersistent apprehensive distress
- psychosisSevere reality detachment
- personality changesShifts in temperament patterns
- mood swingsAbrupt temperament changes
irritability · impulsivity · cognitive decline · behavioral changes
cirrhosis
Irreversible hepatic scarring
- hepatitisInflammatory liver condition
- jaundiceYellowing from bile pigment
- fibrosisPathological connective tissue buildup
hepatomegaly · liver transplant · liver biopsy · bilirubin · albumin · ascites · cholestasis
dystonia
Movement disorder causing postures
- parkinsonismMotor syndrome with tremor, rigidity
- tremorInvoluntary rhythmic shaking
- dysarthriaMotor speech muscle disorder
dysphagia · ataxia · chorea · rigidity · drooling · gait disturbance · cognitive impairment · speech therapy · physical therapy · movement disorder
genetic testing
Analysis for inherited disorders
- newborn screeningMedical tests for infants
dietary restrictions
Rules governing permissible eating
- liver transplantSurgical organ replacement
- vitamin EFat-soluble antioxidant nutrient
- antioxidantsSubstances counteracting oxidative damage
mutation
Permanent DNA alteration
- hereditaryPassed through generations
- allelesVariant forms of genes
- genotypeOrganism's complete allele set
phenotype · penetrance · consanguinity · pedigree · genetic counseling · gene therapy · heterozygote · homozygote
depression
Prolonged low state
- anxietyPersistent apprehensive distress
- psychosisSevere reality detachment
- personality changesShifts in temperament patterns
mood swings · irritability · impulsivity · cognitive decline · behavioral changes
- Liver Diseasescirrhosis, hepatitis, fatty liver, liver failure, liver cancer
- Medical EponymsAlzheimer's, Parkinson's, Crohn's disease, Down syndrome, Huntington's disease
- Genetic Conditionscystic fibrosis, sickle cell, hemophilia, Huntington's disease, Huntington's
- Genetic Disorderscystic fibrosis, hemophilia, sickle cell disease, sickle cell anemia, sickle cell
- Metabolic DisordersPKU, Tay-Sachs disease, Tay-Sachs, Niemann-Pick disease, Krabbe disease
- degenerationdegeneration, neurodegeneration, atrophy, deterioration, demyelination
Wilson's diseaseinfectious disease
Pathogen-caused transmissible ailment
viral infection · bacterial infection · hepatitis C · HIV/AIDS · tuberculosis