Huntington's disease

GPTKB entity

Statements (91)
Predicate Object
gptkbp:instanceOf neurodegenerative disease
gptkbp:affects gptkb:nervous_system
gptkbp:alsoKnownAs gptkb:Huntington_disease
HD
gptkbp:casualties yes
gptkbp:category gptkb:dementia
genetic disorder
rare disease
movement disorder
gptkbp:causedBy mutation in HTT gene
gptkbp:diagnosedBy genetic testing
gptkbp:firstDescribed gptkb:George_Huntington
1872
https://www.w3.org/2000/01/rdf-schema#label Huntington's disease
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
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
sexual dysfunction
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:virus
gptkb:George_Huntington
gptkbp:bfsLayer 5