cerebral adrenoleukodystrophy
GPTKB entity
Statements (53)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:affects |
gptkb:computer
|
| gptkbp:associated_with |
gptkb:neurodegenerative_diseases
cognitive decline increased mortality adrenal insufficiency ataxia peripheral neuropathy neurodegeneration cognitive impairment loss of independence emotional disturbances myelopathy long-chain fatty acid accumulation |
| gptkbp:caused_by |
mutation in the ABCD1 gene
|
| gptkbp:clinical_trial |
ongoing studies
|
| gptkbp:complication |
seizures
hearing loss dysphagia vision loss autonomic dysfunction spasticity |
| gptkbp:diagnosis |
variable
MRI scan |
| gptkbp:first_described_by |
in the 1970s
|
| gptkbp:genetic_studies |
available
|
| https://www.w3.org/2000/01/rdf-schema#label |
cerebral adrenoleukodystrophy
|
| gptkbp:inherits_from |
X-linked recessive
|
| gptkbp:premiered_on |
childhood
|
| gptkbp:prevalence |
1 in 20,000 to 1 in 50,000 births
|
| gptkbp:research_areas |
metabolic disorders
therapeutic interventions community awareness programs longitudinal studies quality of life assessments gene therapy advancements family counseling services patient support initiatives neurogenetics pediatric neurology clinical management strategies |
| gptkbp:research_focus |
biomarkers
therapeutic strategies |
| gptkbp:risk_factor |
family history
male sex |
| gptkbp:symptoms |
behavioral changes
motor dysfunction progressive loss of cognitive function |
| gptkbp:treatment |
gptkb:gene_therapy
supportive care stem cell transplant |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
5
|