Huntington's chorea

E197487

autosomal dominant disease hereditary disease movement disorder neurodegenerative disease rare disease

Huntington's chorea is a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms, typically manifesting in mid-adulthood.

Try in SPARQL Jump to: Surface forms Statements Referenced by

All labels observed (3)

Label	Occurrences
Huntington's chorea canonical	1
Huntington's disease	1
Huntington’s chorea	1

Statements (63)

Predicate	Object
instanceOf	autosomal dominant disease ⓘ hereditary disease ⓘ movement disorder ⓘ neurodegenerative disease ⓘ rare disease ⓘ
anticipationMorePronouncedWith	paternal transmission ⓘ
chromosomalLocationOfGene	4p16.3 ⓘ
encodesMutantProtein	mutant huntingtin protein ⓘ
hasCause	CAG trinucleotide repeat expansion in HTT gene ⓘ
hasClinicalCourse	progressive ⓘ
hasComplication	aspiration pneumonia ⓘ falls ⓘ malnutrition ⓘ suicide risk ⓘ
hasDiagnosticCriterion	CAG repeat expansion above normal threshold ⓘ
hasDiagnosticTest	genetic testing for HTT CAG repeat length ⓘ
hasEpidemiology	more common in populations of European descent ⓘ
hasGeneticBasisIn	HTT gene ⓘ
hasJuvenileForm	juvenile Huntington's disease ⓘ
hasManagement	multidisciplinary care ⓘ
hasModeOfTransmission	vertical transmission from affected parent ⓘ
hasOnset	typically in mid-adulthood ⓘ
hasPathology	neurodegeneration of caudate nucleus ⓘ neurodegeneration of striatum ⓘ neuronal loss in putamen ⓘ
hasPathophysiology	toxic gain-of-function of mutant huntingtin protein ⓘ
hasPenetrance	high penetrance for pathogenic CAG expansions ⓘ
hasPrevalence	approximately 5 to 10 per 100,000 in Western populations ⓘ
hasPrognosis	progressive functional decline ⓘ reduced life expectancy ⓘ
hasRiskFactor	having a parent with Huntington's disease ⓘ
hasSymptom	anxiety ⓘ apathy ⓘ bradykinesia ⓘ chorea ⓘ cognitive decline ⓘ depression ⓘ dysarthria ⓘ dysphagia ⓘ dystonia ⓘ executive dysfunction ⓘ gait disturbance ⓘ involuntary jerky movements ⓘ irritability ⓘ memory impairment ⓘ motor incoordination ⓘ obsessive-compulsive symptoms ⓘ psychiatric symptoms ⓘ psychosis ⓘ
hasSynonym	HD ⓘ Huntington's chorea self-linksurface differs ⓘ surface form: Huntington's disease
hasTreatment	antidepressants for mood symptoms ⓘ antipsychotic medications for behavioral symptoms ⓘ deutetrabenazine for chorea ⓘ symptomatic treatment only ⓘ tetrabenazine for chorea ⓘ
hasTypicalAgeOfOnset	30 to 50 years ⓘ
inheritancePattern	autosomal dominant ⓘ
isPreventableBy	no known primary prevention ⓘ
juvenileFormFeatures	rigidity and seizures more prominent ⓘ
namedAfter	George Huntington ⓘ
showsPhenomenon	anticipation ⓘ
typicalLifeExpectancyAfterOnset	about 15 to 20 years ⓘ

Referenced by (3)

Full triples — surface form annotated when it differs from this entity's canonical label.

Law for the Prevention of Hereditarily Diseased Offspring → targetedCondition → Huntington's chorea ⓘ

Huntington's chorea → hasSynonym → Huntington's chorea self-linksurface differs ⓘ

this entity surface form: Huntington's disease

Hereditary Health Courts → targetedCondition → Huntington's chorea ⓘ

this entity surface form: Huntington’s chorea