Autosomal recessive dopa-responsive dystonia (Q64260): Difference between revisions
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Revision as of 11:51, 14 August 2026
This is a rare recessively inherited movement disorder which usually manifests itself during early childhood. The characteristic clinical features are as in the parent category. It may be is due to a mutation in thetyrosine hydroxylase gene and has a more complex phenotype than GTP cyclohydrolase mutation. Oculogyric crises may occur.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1208668939 |
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| English | Autosomal recessive dopa-responsive dystonia |
This is a rare recessively inherited movement disorder which usually manifests itself during early childhood. The characteristic clinical features are as in the parent category. It may be is due to a mutation in thetyrosine hydroxylase gene and has a more complex phenotype than GTP cyclohydrolase mutation. Oculogyric crises may occur. |
