Dystonia, Dopa-Responsive (DRD)

Alias:

Dopa-Responsive Dystonia

Dystonia 5

Drd

Hereditary Progressive Dystonia with Diurnal Fluctuation

Dystonia-Parkinsonism with Diurnal Fluctuation

Hpd with Diurnal Fluctuation

Dyt5

Hereditary Progressive Dystonia with Marked Diurnal Fluctuation

Dystonia, Progressive, with Diurnal Variation

Dystonia, Dopa-Responsive, Autosomal Dominant

Progressive Dystonia with Diurnal Fluctuation

Dopa-Responsive Dystonia, Autosomal Dominant

Autosomal Dominant Dopa-Responsive Dystonia

Dystonia Progressive with Diurnal Variation

Dystonia, Type 5, Dopa-Responsive Type

Segawa Syndrome, Autosomal Dominant

Autosomal Dominant Segawa Syndrome

Dystonia 5, Dopa-Responsive Type

Dystonia-5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Dystonia, Dopa-Responsive, also known as dopa-responsive dystonia, is related to dystonia, dopa-responsive, due to sepiapterin reductase deficiency and hyperphenylalaninemia, bh4-deficient, a, and has symptoms including torticollis, dystonia, diurnal and gait ataxia. An important gene associated with Dystonia, Dopa-Responsive is GCH1 (GTP Cyclohydrolase 1), and among its related pathways/superpathways are Monoamine transport and Metabolism of cofactors. The drugs Dopamine and Dopamine Agents have been mentioned in the context of this disorder. Affiliated tissues include brain and subthalamic nucleus, and related phenotypes are depression and ataxia

Related ID：

MALACARDS：DYS192

OMIM：128230

MESH：D004421