dystonia 5
MONDO:0007495Mondo
Findings
No curated finding names dystonia 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene.
Definition from the Mondo Disease Ontology (MONDO:0007495), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- DystoniaHPOHP:0001332
- 4 of 4 reported patients
- Gaze-evoked horizontal nystagmusHPOHP:0007979
- 4 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 4 of 4 reported patients
- Parkinsonism with favorable response to dopaminergic medicationHPOHP:0002548
- 4 of 4 reported patients
- Babinski signHPOHP:0003487
- 3 of 4 reported patients
- TorticollisHPOHP:0000473
- 3 of 4 reported patients
- BradykinesiaHPOHP:0002067
Show the remaining 5
- Pes cavusHPOHP:0001761
- 2 of 4 reported patients
- Cogwheel rigidityHPOHP:0002396
- 1 of 4 reported patients
- Impaired distal vibration sensationHPOHP:0006886
- 1 of 4 reported patients
- Resting tremorHPOHP:0002322
- 1 of 4 reported patients
- SpasticityHPOHP:0001257
- 1 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GCH1HGNC:4193
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
10 names
Resolves to: dystonia 5
- Also called
- Dopa-responsive dystonia, autosomal dominantdystonia type 5dystonia-Parkinsonism with diurnal fluctuationdystonia, Dopa-responsive, autosomal dominantdystonia, DOPA-responsive, with or without hyperphenylalaninemiadystonia, progressive, with diurnal variationDYT-GCH1GTP cyclohydrolase 1-deficient dopa-responsive dystoniaSegawa SyndromeSegawa syndrome, autosomal dominant