|
gptkbp:instanceOf
|
gptkb:neurodegenerative_disease
|
|
gptkbp:affects
|
gptkb:basal_ganglia
central 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:geneticTestAvailable
|
yes
|
|
gptkbp:hasNoCure
|
yes
|
|
gptkbp:hasOrphanetID
|
399
|
|
gptkbp:ICD-10_code
|
G10
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_4
|
|
gptkbp:MeSH_ID
|
D006816
|
|
gptkbp:mutationAssociatedWith
|
CAG trinucleotide repeat expansion
|
|
gptkbp:namedAfter
|
gptkb:George_Huntington
|
|
gptkbp:OMIM
|
143100
|
|
gptkbp:onset
|
30-50 years
|
|
gptkbp:prevalence
|
3-7 per 100,000 people of European descent
|
|
gptkbp:prognosis
|
death 15-20 years after onset
|
|
gptkbp:progression
|
progressive
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:symptom
|
gptkb:depression
cognitive decline
memory loss
anxiety
weight loss
difficulty swallowing
dystonia
irritability
slurred speech
chorea
impaired coordination
obsessive-compulsive behaviors
personality changes
psychiatric symptoms
|
|
gptkbp:treatment
|
gptkb:tetrabenazine
occupational therapy
physical therapy
speech therapy
symptomatic management
antipsychotic medications
|
|
gptkbp:bfsParent
|
gptkb:Spasmodic_Movements
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Huntington's Disease
|