" /> Autosomal dominant dopa-responsive dystonia - CISMeF





Preferred Label : Autosomal dominant dopa-responsive dystonia;

ICD-11 definition : 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.;

ICD-11 synonym : HPD - [ hereditary progressive dystonia] with marked diurnal fluctuation; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant DRD; Autosomal dominant DRD - [dopa-responsive dystonia]; HPD with marked diurnal fluctuation; Autosomal dominant Segawa syndrome; DYT5a; dopa-responsive dystonia;

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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.

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25/05/2025


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