loading...| Preferred Name | Lafora disease | |
| Synonyms |
EPM2 Progressive myoclonus epilepsy type 2 Progressive myoclonic epilepsy type 2 PME type 2 |
|
| Definitions |
A rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_501 |
|
| alternative_term |
EPM2 Progressive myoclonus epilepsy type 2 Progressive myoclonic epilepsy type 2 PME type 2 |
|
| definition |
A rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=501 |
|
| has_age_of_onset |
Adolescent |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-11:8A61.41 UMLS:C0751783 OMIM:254780 ICD-10:G40.3 MeSH:D020192 MedDRA:10054030 |
|
| label |
Lafora disease |
|
| notation |
ORPHA:501 |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_501 |
|
| prefLabel |
Lafora disease |
|
| present_in |
France AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 300.0 (Case) Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView | ||
| subClassOf |