Symbol
| DYT5
|
Location
| 14q22.2
|
HGNC id
| 3105
|
Name
|
dystonia 5, progressive, with diurnal variations |
Other name(s)
|
hereditary progressive dystonia with marked diurnal fluctuation
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia |
Corresponding gene
|
GCH1
|
Other symbol(s)
| DDR, DRD, DYT14
|
Main clinical features
|
dopa-responsive, with childhood onset, tetrahydrobiopterin BH4 synthesis deficiency
marked diurnal fluctuations and an excellent response to levodopa
can be the major clinical sign |
Genetic determination
| autosomal dominant |
Prevalence
| 50–87% of DRD
|
Related entries
| . including adult onset oromandibular dystonia, and autosomal dominant form of Segawa syndrome
|
Function/system disorder
| neurology |
Type
| disease
|