Statements (60)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:advocacy |
increased awareness and education
|
| gptkbp:age |
typically between 30 and 50 years
|
| gptkbp:associated_with |
anxiety
depression sleep disturbances weight loss difficulty swallowing chorea dementia impulsivity personality changes |
| gptkbp:causedBy |
mutation_in_the_HTT_gene
|
| gptkbp:clinicalTrials |
behavioral changes
ongoing for new treatments motor dysfunction cognitive dysfunction variable expressivity progressive disorder |
| gptkbp:community_involvement |
available for patients and families
|
| gptkbp:demographics |
approximately 5-10 per 100,000 people
|
| gptkbp:diseaseResistance |
genetic testing
|
| gptkbp:funding |
available from various organizations
|
| gptkbp:geneticDiversity |
available for at-risk individuals
recommended for at-risk individuals negative result indicates no risk positive result indicates 100% risk |
| gptkbp:historical_significance |
first described in 1872
|
| https://www.w3.org/2000/01/rdf-schema#label |
Huntington's Disease
|
| gptkbp:impact |
physical therapy
occupational therapy speech therapy nervous system symptomatic management antidepressants affects multiple generations antipsychotic medications |
| gptkbp:influence |
affects individuals worldwide
|
| gptkbp:introduced |
George_Huntington
|
| gptkbp:is_a_route_for |
loss of medium spiny neurons
neurodegeneration of basal ganglia increased_CAG_repeats_in_HTT_gene |
| gptkbp:nobleFamily |
autosomal dominant
|
| gptkbp:notableFeature |
gptkb:Woody_Guthrie
gptkb:Charles_Sabine Marilyn_Monroe_(speculated) |
| gptkbp:provides |
gptkb:Huntington's_Disease_Society_of_America
gptkb:Huntington's_Disease_Association |
| gptkbp:research_focus |
gene therapy
neuroprotective strategies symptomatic treatments ongoing for early detection |
| gptkbp:riskManagement |
age
family history gender (equal in males and females) |
| gptkbp:supportRole |
important for quality of life
|
| gptkbp:symptoms |
cognitive decline
psychiatric disorders involuntary movements |
| gptkbp:technology |
aims to find disease-modifying therapies
|