Properties (59)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:ageLimit |
infancy
|
| gptkbp:associatedWith |
sleep disturbances
chronic pain poor coordination vision problems hearing loss intellectual disability behavioral issues increased risk of infections social withdrawal failure to thrive emotional instability short stature increased anxiety hypotonia autonomic dysfunction spasticity skin issues dental problems difficulty with balance difficulty with communication difficulty with transitions poor impulse control increased sensitivity to stimuli difficulties with swallowing gastrointestinal problems increased N-acetylaspartate levels increased muscle stiffness severe behavioral problems severe cognitive impairment severe fatigue |
| gptkbp:causedBy |
mutations_in_the_ASPA_gene
|
| gptkbp:clinicalTrials |
ongoing
|
| gptkbp:commonName |
gptkb:Ashkenazi_Jewish_population
Irish population French_Canadian_population |
| gptkbp:community_service |
N-acetylaspartate
|
| gptkbp:demographics |
1 in 40,000 births
|
| gptkbp:diseaseResistance |
genetic testing
MRI scan |
| gptkbp:geneticDiversity |
recommended for families
|
| https://www.w3.org/2000/01/rdf-schema#label |
Canavan disease
|
| gptkbp:impact |
physical therapy
supportive care occupational therapy speech therapy myelin_sheath |
| gptkbp:introduced |
in 1931
|
| gptkbp:legalEvent |
varies by severity
|
| gptkbp:namedAfter |
gptkb:Dr._Myron_Canavan
|
| gptkbp:nobleFamily |
autosomal recessive
|
| gptkbp:researchFocus |
gene therapy
stem cell therapy enzyme replacement therapy |
| gptkbp:symptoms |
seizures
loss of motor skills developmental delay abnormal muscle tone |