Autosomal dominant dopa-responsive dystonia

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Autosomal dominant dopa-responsive dystonia

Synonyms: Autosomal dominant Segawa syndrome | DYT5a | GTPCH1-deficient DRD | GTPCH1-deficient dopa-responsive dystonia | HPD with marked diurnal fluctuation | Hereditary progressive dystonia with marked diurnal fluctuation

A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Autosomal dominant dopa-responsive dystonia?

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Clinical Trials

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