Autosomal dominant cerebellar ataxia type 2 (Q85239): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A ataxia espinocerebelar 2 está associada a ataxia, hipotonia, neuropatia, distonia e movimentos oculares lentos, com início dos sintomas durante a metade da idade adulta. Associada a uma expansão de repetição CAG exônica no gene ATXN2 que codifica a ataxina-2. | |||
| description / en | description / en | ||
Spinocerebellar ataxia 2 is associated with ataxia, hypotonia, neuropathy, dystonia, and slow eye movements with symptom onset during mid-adulthood. Associated with an exonic CAG repeat expansion in the ATXN2 gene coding for ataxin-2. | |||
Revision as of 10:36, 15 August 2026
Spinocerebellar ataxia 2 is associated with ataxia, hypotonia, neuropathy, dystonia, and slow eye movements with symptom onset during mid-adulthood. Associated with an exonic CAG repeat expansion in the ATXN2 gene coding for ataxin-2.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1803607232 |
||
| English | Autosomal dominant cerebellar ataxia type 2 |
Spinocerebellar ataxia 2 is associated with ataxia, hypotonia, neuropathy, dystonia, and slow eye movements with symptom onset during mid-adulthood. Associated with an exonic CAG repeat expansion in the ATXN2 gene coding for ataxin-2. |
