Term Name: dopa-responsive dystonia
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 )

Relationships
is a type of: autosomal dominant disease autosomal recessive disease dystonia