ORPHA:71517
Rapid-onset dystonia-parkinsonism
Synonyms: DYT12 · Dystonia 12
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rapid-onset dystonia-parkinsonism | DYT12 · Dystonia 12 |
| fr | Dystonie-parkinsonisme à début rapide | DYT12 · Dystonie 12 |
| de | Dystonie-Parkinsonismus mit rapidem Beginn | |
| es | Distonía-parkinsonismo de inicio rápido | |
| it | Distonia - parkinsonismo, a esordio rapido | DYT12 · Distonia 12 |
| nl | Dystonie-parkinsonisme met snelle aanvang | DYT12 · Dystonie 12 |
| pt | Distonia-parkinsonismo de início agudo | DYT12 · Distonia 12 |
| pl | Dystonia-parkinsonizm o nagłym początku | Dystonia 12 · DYT12 |
| cs | Dystonie/parkinsonismus s rychlým nástupem | DYT12 · Dystonie 12 |
| uk | Швидко прогресуюча дистонія-паркінсонізм | Дистонія 12 · DYT12 |
| zh | 快发作性肌张力障碍-帕金森综合征 | 肌张力障碍12型 |
| tr | Hızlı başlangıçlı distoni-parkinson | DYT12 · Distoni 12 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 128235 | E | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| ICD-11 | 8A02.12 | NTBT | index | validated |
| MONDO | 0007496 | E | validated | |
| MeSH | C538001 | E | validated | |
| UMLS | C1868681 | E | validated | |
| GARD | 9628 | E | validated | |
| MedDRA | 10083658 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:391711Persistent combined dystonia
rare genetic diseases; rare neurological diseases - ORPHA:307052Rare genetic parkinsonian disorder
rare genetic diseases - ORPHA:68402Rare parkinsonian disorder
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP1A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:801 | ENSG00000105409 | 182350 | 19q13.2 | ATPase Na+/K+ transporting subunit alpha 3 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 17282997[PMID]_15260953[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
20 annotations · validated 2018-10-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002067 | Bradykinesia | |
| HP:0012179 | Craniofacial dystonia | |
| HP:0002307 | Drooling | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0002066 | Gait ataxia | |
| HP:0000338 | Hypomimic face | |
| HP:0002451 | Limb dystonia | |
| HP:0001270 | Motor delay | |
| HP:0002300 | Mutism | |
| HP:0001300 | Parkinsonism | |
| HP:0002172 | Postural instability | |
| HP:0000473 | Torticollis | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0000716 | Depression | |
| HP:0000712 | Emotional lability | |
| HP:0002322 | Resting tremor | |
| HP:0001250 | Seizure | |
| Very rare (<4-1%) | ||
| HP:0001290 | Generalized hypotonia | |
Annotation source: 22030388[PMID]_20482602[PMID]_8255463[PMID]_17282997[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71517
- This record as JSON: /data/d/71517.json