loading...| Preferred Name | Lafora Disease [Disease/Finding] | |
| Synonyms |
Progressive Myoclonic Epilepsy Type 2 Lafora Body Disorder Epilepsy, Progressive Myoclonic, Lafora Progressive Myoclonic Epilepsy, Lafora Progressive Myoclonic Epilepsy, Lafora Type Lafora Body Disease Myoclonic Epilepsy of Lafora Epilepsy Progressive Myoclonic 2 Lafora Progressive Myoclonus Epilepsy Progressive Myoclonus Epilepsy, Lafora Type Lafora Type Progressive Myoclonic Epilepsy Epilepsy, Progressive Myoclonic 2A Lafora Disease Lafora Progressive Myoclonic Epilepsy |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000004031 |
|
| altLabel |
Progressive Myoclonic Epilepsy Type 2 Lafora Body Disorder Epilepsy, Progressive Myoclonic, Lafora Progressive Myoclonic Epilepsy, Lafora Progressive Myoclonic Epilepsy, Lafora Type Lafora Body Disease Myoclonic Epilepsy of Lafora Epilepsy Progressive Myoclonic 2 Lafora Progressive Myoclonus Epilepsy Progressive Myoclonus Epilepsy, Lafora Type Lafora Type Progressive Myoclonic Epilepsy Epilepsy, Progressive Myoclonic 2A Lafora Disease Lafora Progressive Myoclonic Epilepsy |
|
| cui |
C0751783 |
|
| MESH DEFINITION |
A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110) |
|
| MESH DUI |
D020192 |
|
| MeSH name |
Lafora Disease |
|
| MESH UI |
M0328685 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000004031 |
|
| NUI |
N0000004031 |
|
| prefLabel |
Lafora Disease [Disease/Finding] |
|
| SNOMED CID |
230425004 |
|
| tui |
T047 |
|
| subClassOf |