dystonia, DOPA-responsive

Term ID

DOID:0060963

Synonyms

• Autosomal dominant Segawa syndrome
• DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT
• DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT
• DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION
• DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION
• GTPCH1-deficient dopa-responsive dystonia
• GTPCH1-deficient DRD
• Hereditary progressive dystonia with marked diurnal fluctuation
• HPD with marked diurnal fluctuation

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 gene encoding GTP cyclohydrolase I (GCH1; 600225) on chromosome 14q13. https://pubmed.ncbi.nlm.nih.gov/17111153/

References

• ICD10:G24.1
• OMIM:128230
• ORDO:98808

Ontology

Human Disease   ( DOID:0060963 )