Statements (90)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:neurodegenerative_disease
|
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:alsoKnownAs |
gptkb:Huntington_disease
HD |
| gptkbp:casualties |
yes
|
| gptkbp:category |
gptkb:genetic_disorder
gptkb:dementia gptkb:movement_disorder gptkb:rare_disease |
| gptkbp:causedBy |
mutation in HTT gene
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:George_Huntington
1872 |
| gptkbp:ICD-10_code |
G10
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:inheritanceRisk |
50% if one parent affected
|
| gptkbp:involvesProtein |
huntingtin
|
| gptkbp:lifeExpectancyAfterOnset |
15–20 years
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_4
|
| gptkbp:MeSH_ID |
D006816
|
| gptkbp:mutationAssociatedWith |
CAG trinucleotide repeat expansion
|
| gptkbp:notableCase |
gptkb:Woody_Guthrie
|
| gptkbp:OMIM |
143100
|
| gptkbp:onset |
typically between ages 30 and 50
|
| gptkbp:organization |
gptkb:European_Huntington_Association
gptkb:Huntington's_Disease_Association_(UK) gptkb:Huntington's_Disease_Society_of_America |
| gptkbp:prevalence |
about 5–10 per 100,000 people of European descent
|
| gptkbp:progression |
progressive
|
| gptkbp:researchModel |
transgenic mice
|
| gptkbp:riskFactor |
family history
|
| gptkbp:symptom |
gptkb:dementia
gptkb:depression gptkb:sexual_dysfunction cognitive decline memory loss anxiety bradykinesia fatigue paranoia rigidity sleep disturbances weight loss difficulty swallowing emotional lability apathy aggression suicidal thoughts insomnia dystonia hallucinations irritability seizures (rare) difficulty walking slurred speech chorea difficulty concentrating difficulty learning new information difficulty organizing difficulty planning difficulty recognizing faces difficulty with daily living activities difficulty with driving difficulty with finances difficulty with multitasking difficulty with parenting difficulty with relationships difficulty with self-care difficulty with spatial awareness difficulty with speech production difficulty with swallowing difficulty with time management difficulty with work performance impaired coordination impaired judgment involuntary movements loss of initiative loss of interest in activities motor dysfunction obsessive-compulsive behaviors personality changes psychiatric symptoms social withdrawal urinary incontinence |
| gptkbp:treatment |
symptomatic management
no cure |
| gptkbp:bfsParent |
gptkb:Woody_Guthrie
gptkb:George_Huntington |
| gptkbp:bfsLayer |
5
|
| https://www.w3.org/2000/01/rdf-schema#label |
Huntington's disease
|