Primary dystonia DYT1 gene mutation (Q107431): 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 distonia primária devida a mutação do gene DYT1 é um distúrbio autossômico dominante causado pela deleção GAG do TOR1A (Torsin A) no cromossomo 9. Frequentemente começa como uma distonia focal de membros inferiores na primeira infância, que pode progredir para distonia generalizada. | |||
| description / en | description / en | ||
Primary dystonia due to DYT1 gene mutation is an autosomal dominant disorder caused by GAG deletion of the TOR1A (Torsin A) on chromosome 9. Often starts as a focal lower extremity dystonia in early childhood, which can progress to generalized dystonia. | |||
Revision as of 14:25, 17 August 2026
Primary dystonia due to DYT1 gene mutation is an autosomal dominant disorder caused by GAG deletion of the TOR1A (Torsin A) on chromosome 9. Often starts as a focal lower extremity dystonia in early childhood, which can progress to generalized dystonia.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1330415415 |
||
| English | Primary dystonia DYT1 gene mutation |
Primary dystonia due to DYT1 gene mutation is an autosomal dominant disorder caused by GAG deletion of the TOR1A (Torsin A) on chromosome 9. Often starts as a focal lower extremity dystonia in early childhood, which can progress to generalized dystonia. |
