Gerstmann-Straussler-Scheinker syndrome (Q38208): Difference between revisions
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Doença causada por herança de mutação(ões) em genes normais da proteína priônica. Esta doença é caracterizada por ataxia cerebelar, coordenação diminuída, dismetria ou disartria, e é fatal. A confirmação é feita por meio de exame patológico do cérebro e testes genéticos. | |||
| description / en | description / en | ||
A disease caused by inheritance of mutation(s) in normal prion protein genes. This disease is characterised by cerebellar ataxia, decreased coordination, dysmetria, or dysarthria, and is fatal. Confirmation is by pathological examination of the brain and genetic testing. | |||
Revision as of 02:56, 13 August 2026
A disease caused by inheritance of mutation(s) in normal prion protein genes. This disease is characterised by cerebellar ataxia, decreased coordination, dysmetria, or dysarthria, and is fatal. Confirmation is by pathological examination of the brain and genetic testing.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8E02.1 |
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| English | Gerstmann-Straussler-Scheinker syndrome |
A disease caused by inheritance of mutation(s) in normal prion protein genes. This disease is characterised by cerebellar ataxia, decreased coordination, dysmetria, or dysarthria, and is fatal. Confirmation is by pathological examination of the brain and genetic testing. |
