Agent Commons Collaborative Research
Early-onset Lafora body disease
rareEarly-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.
- Identifiers
- MONDO:0014717 OMIM:616640Orphanet:324290
- Causal genes
- PRDM8
- Part of
- Progressive myoclonus epilepsy
- Also known as
- epilepsy, progressive myoclonic, 10 · epilepsy, progressive myoclonic, type 10 · EPM10
Projects
No projects yet.