dystonia 12
Findings
No curated finding names dystonia 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.
Definition from the Mondo Disease Ontology (MONDO:0007496), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
23 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.
- Bulbar signsHPOHP:0002483
- 8 of 11 reported patients
- BradykinesiaHPOHP:0002067
- Frequent (30% to 79% of cases)
- Craniofacial dystoniaHPOHP:0012179
- Frequent (30% to 79% of cases)
- DroolingHPOHP:0002307
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
Show the remaining 11
- Postural instabilityHPOHP:0002172
- Frequent (30% to 79% of cases)
- TorticollisHPOHP:0000473
- Frequent (30% to 79% of cases)
- TremorHPOHP:0001337
- 5 of 11 reported patients
- AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
- Cerebellar atrophyHPOHP:0001272
- Occasional (5% to 29% of cases)
- DepressionHPOHP:0000716
- Occasional (5% to 29% of cases)
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.
- ATP1A3HGNC:801
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2016
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: dystonia 12
- Also called
- ATP1A3 dystonic disorderdystonia type 12dystonia-12dystonic disorder caused by mutation in ATP1A3DYT-ATP1A3DYT12