Autosomal dominant dopa-responsive dystonia (Q99659): Difference between revisions
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Revision as of 16:19, 16 August 2026
This disorder involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). Patients often have diurnal fluctuations with worsening in the afternoon and improvement in the morning. Parikinsonism may occur in older individuals in the family. It is inherited in an autosomal dominant fashion and is often responsive to treatment with L-Dopa, also called Segawa Disease. It is due to a mutation in the GTP Cyclohydrolase gene, sometimes due to variations in other genes.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1143673207 |
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| English | Autosomal dominant dopa-responsive dystonia |
This disorder involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). Patients often have diurnal fluctuations with worsening in the afternoon and improvement in the morning. Parikinsonism may occur in older individuals in the family. It is inherited in an autosomal dominant fashion and is often responsive to treatment with L-Dopa, also called Segawa Disease. It is due to a mutation in the GTP Cyclohydrolase gene, sometimes due to variations in other genes. |
