Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
neurodegenerative disease |
| gptkbp:affects |
central nervous system
|
| gptkbp:alsoKnownAs |
Lafora body disease
myoclonic epilepsy with Lafora bodies |
| gptkbp:casualties |
usually fatal within 10 years of onset
|
| gptkbp:characterizedBy |
Lafora bodies
|
| gptkbp:diagnosedBy |
genetic testing
skin biopsy |
| gptkbp:firstDescribed |
gptkb:Gonzalo_Rodríguez_Lafora
1911 |
| https://www.w3.org/2000/01/rdf-schema#label |
Lafora disease
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
EPM2A gene
EPM2B gene NHLRC1 gene |
| gptkbp:namedAfter |
gptkb:Gonzalo_Rodríguez_Lafora
|
| gptkbp:onset |
adolescence
|
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
rapidly progressive
|
| gptkbp:symptom |
ataxia
visual hallucinations myoclonus epileptic seizures progressive dementia |
| gptkbp:treatment |
symptomatic management
antiepileptic drugs |
| gptkbp:bfsParent |
gptkb:glycogen_storage_diseases
|
| gptkbp:bfsLayer |
7
|