loading...| Preferred Name | Huntington disease-like 1 | |
| Synonyms |
Early-onset prion disease with prominent psychiatric features HDL1 |
|
| Definitions |
A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_157941 |
|
| alternative_term |
Early-onset prion disease with prominent psychiatric features HDL1 |
|
| definition |
A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=157941 |
|
| hasDbXref |
MeSH:C566398 OMIM:603218 UMLS:C1864112 ICD-11:8A01.11 ICD-10:G10 |
|
| label |
Huntington disease-like 1 |
|
| notation |
ORPHA:157941 |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_157941 |
|
| prefLabel |
Huntington disease-like 1 |
|
| treeView | ||
| subClassOf |