Autosomal dominant dopa-responsive dystonia (Q99659): Difference between revisions

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Latest revision as of 16:20, 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
default for all languages	ID_1143673207
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.