Huntington disease-like 1 prion disease (Q91712): Difference between revisions
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Uma doença priônica humana rara, genética, caracterizada por manifestações neurodegenerativas de início na idade adulta associadas a um transtorno do movimento e distúrbios psiquiátricos/comportamentais. Os pacientes tipicamente apresentam alterações de personalidade, agressividade, manias, ansiedade e/ou depressão em conjunto com declínio cognitivo rapidamente progressivo (apresentando-se com disartria, apraxia, afasia e, eventualmente, levando à demência), bem como ataxia (manifestando-se com distúrbios da marcha, instabilidade, problemas de coordenação), parkinsonismo, mioclonia e/ou coreia. Características adicionais podem incluir espasticidade generalizada, convulsões, incontinência urinária e anormalidades piramidais. | |||
| description / en | description / en | ||
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. | |||
Revision as of 18:44, 15 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1694052614 |
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| English | Huntington disease-like 1 prion disease |
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. |
