Sandhoff disease

GPTKB entity

Statements (63)
Predicate Object
gptkbp:instance_of gptkb:physicist
gptkbp:affects gptkb:computer
gptkbp:associated_with gptkb:healthcare_organization
gptkb:historical_event
gptkb:psychologist
cognitive decline
sleep disturbances
aggression
respiratory failure
ataxia
deafness
severe pain
behavioral issues
skin lesions
social withdrawal
failure to thrive
neurodegeneration
motor dysfunction
autism spectrum disorder
dysphagia
loss of independence
dysarthria
hypotonia
scoliosis
spasticity
contractures
cardiac issues
loss of motor skills
hyperactivity
hepatosplenomegaly
severe fatigue
severe anxiety
loss of speech
cherry-red spot in the eye
loss of self-care skills
loss of social skills
need for full-time care
severe developmental delay
gptkbp:category gptkb:physicist
gptkbp:caused_by hexosaminidase A and B deficiency
gptkbp:clinical_trial ongoing studies
gene therapy trials
enzyme replacement trials
gptkbp:current_use gptkb:Tay-Sachs_disease
G M2 gangliosidosis
gptkbp:descendant autosomal recessive
gptkbp:first_described_by gptkb:1968
https://www.w3.org/2000/01/rdf-schema#label Sandhoff disease
gptkbp:is_a_basis_for mutations in HEXA gene
mutations in HEXB gene
gptkbp:is_popular_in rare
gptkbp:is_tested_for elevated G M2 gangliosides
elevated hexosaminidase levels
gptkbp:lifespan shortened
gptkbp:premiered_on infancy
gptkbp:research_focus gptkb:physicist
gptkbp:social_responsibility genetic testing
enzyme assay
gptkbp:symptoms seizures
muscle weakness
vision loss
progressive neurological decline
gptkbp:treatment supportive care