| Metadata | |
|---|---|
| ID | DOID:0090043 |
| Name | dopa-responsive dystonia |
| 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. https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia/, https://www.ncbi.nlm.nih.gov/books/NBK1508/, https://pubmed.ncbi.nlm.nih.gov/17111153/ |
| Xrefs | |
| Alternateids |
DOID:0060963 |
| Subsets |
DO_rare_slim |
| Synonyms |
Autosomal dominant Segawa syndrome [EXACT] DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT [EXACT] dystonia 5 [EXACT] DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT [EXACT] DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION [EXACT] GTPCH1-deficient dopa-responsive dystonia [EXACT] GTPCH1-deficient DRD [EXACT] Hereditary progressive dystonia with marked diurnal fluctuation [EXACT] HPD with marked diurnal fluctuation [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |