loading...| Preferred Name |
Unverricht-Lundborg Syndrome [Disease/Finding] |
|
| Synonyms |
Epilepsy, Progressive Myoclonic Type 1 |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000004032 |
|
| altLabel |
Epilepsy, Progressive Myoclonic Type 1 Progressive Myoclonus Epilepsy 1 Unverricht Disease Unverricht-Lundborg Disease Progressive Myoclonus Epilepsybaltic Myoclonic Epilepsy Epilepsy, Progressive Myoclonic 1 Unverricht-Lundborg Syndrome Baltic Myoclonic Epilepsy Baltic Myoclonus Mediterranean Myoclonic Epilepsy Myoclonus Progressive Epilepsy of Unverricht and Lundborg Epilepsy, Progressive Myoclonic 1a Baltic Myoclonus Epilepsy Myoclonic Epilepsy of Unverricht and Lundborg Epilepsy, Progressive Myoclonus 1 Lundborg-Unverricht Syndrome |
|
| cui |
C0751785 |
|
| MESH DEFINITION |
An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, dysarthria, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland. (From Menkes, Textbook of Child Neurology, 5th ed, pp109-110) |
|
| MESH DUI |
D020194 |
|
| MeSH name |
Unverricht-Lundborg Syndrome |
|
| MESH UI |
M0328656 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000004032 |
|
| NUI |
N0000004032 |
|
| prefLabel |
Unverricht-Lundborg Syndrome [Disease/Finding] |
|
| SNOMED CID |
230423006 |
|
| tui |
T047 |
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| subClassOf |