dystonia 5

Term ID

DOID:0090043

Synonyms

Definition

A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13. (3)

References

• ICD10CM:G24.1
• OMIM:128230
• ORDO:98808

Ontology

Human Disease   ( DOID:0090043 )