Term Name: | dopa-responsive dystonia |
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Synonyms: | dystonia 5 |
Definition: | A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. |
Ontology: | Human Disease [DOID:0090043] ( DOID:0090043 ) |