Lafora disease
Lafora disease
Definition
Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.
Also known as epilepsy, progressive myoclonic 2A (Lafora), epilepsy, progressive myoclonic 2B (Lafora), EPM2, Lafora disease, myoclonic epilepsy of Lafora, PME type 2, progressive myoclonic epilepsy type 2, progressive myoclonus epilepsy type 2 — per MONDO
Also identified as
- DOID 3534 per MONDO
- MESH D020192 per MONDO
- NCIT C84804 per MONDO
- Orphanet 501 per MONDO
- SCTID 230425004 per MONDO
- UMLS C0751783 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Brain | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Brain | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |