ORPHA:420492
Adult-onset cervical dystonia, DYT23 type
Synonyms: DYT23 · Dystonia 23
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult-onset cervical dystonia, DYT23 type | DYT23 · Dystonia 23 |
| fr | Dystonie cervicale de l'adulte, type DYT23 | DYT23 · Dystonie 23 |
| de | Zervikale Dystonie mit Beginn im Erwachsenenalter Typ DYT23 | DYT23 · Dystonie 23 |
| es | Distonía cervical de inicio en el adulto tipo DYT23 | DYT23 · Distonía 23 |
| it | Distonia cervicale a esordio nell'età adulta, tipo DYT23 | DYT23 · Distonia 23 |
| nl | Cervicale dystonie met aanvang op volwassen leeftijd, DYT23-type | DYT23 · Dystonie 23 |
| pt | Distonia cervical com início no adulto, tipo DYT23 | |
| pl | Dystonia szyjna o początku w wieku dorosłym, typ DYT23 | Dystonia 23 · DYT23 |
| cs | Cervikální dystonie s nástupem v dospělosti, typ DYT23 | DYT23 · Dystonie 23 |
| uk | Цервікальна дистонія у дорослих, тип DYT23 | Дистонія 23 · DYT23 |
| zh | 成年起病颈肌张力障碍DYT23型 | 张力异常23型 |
| tr | Erişkin başlangıçlı servikal distoni, DYT23 tipi | DYT23 · Distoni 23 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614860 | E | validated | |
| ICD-10 | G24.8 | NTBT | attributed | validated |
| MONDO | 0013928 | E | validated | |
| UMLS | C3538999 | 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 (1):
- ORPHA:1866Focal, segmental or multifocal dystonia
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:99663OBSOLETE: Vestibular torticollis referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CIZ1 | Candidate gene tested in | Not yet assessed | HGNC:16744 | ENSG00000148337 | 611420 | 9q34.11 | CDKN1A interacting zinc finger protein 1 | 22447717[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 8232359[PMID]_21370267[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8232359[PMID]_21370267[PMID] |
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
17 annotations · validated 2018-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002530 | Axial dystonia | |
| HP:0012179 | Craniofacial dystonia | |
| HP:0001618 | Dysphonia | |
| HP:0004373 | Focal dystonia | |
| HP:0001288 | Gait disturbance | |
| HP:0002346 | Head tremor | |
| HP:0200085 | Limb tremor | |
| HP:0001336 | Myoclonus | |
| HP:0012893 | Neck muscle hypertrophy | |
| HP:0000473 | Torticollis | |
| HP:0002317 | Unsteady gait | |
| HP:0002356 | Writer's cramp | |
| Occasional (29-5%) | ||
| HP:0002883 | Hyperventilation | |
| HP:0025269 | Panic attack | |
| HP:0005115 | Supraventricular arrhythmia | |
| Very rare (<4-1%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0002120 | Cerebral cortical atrophy | |
Annotation source: 21370267[PMID]_25296916[PMID]_22447717[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/420492
- This record as JSON: /data/d/420492.json