ORPHA:420485
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Synonyms: DYT24 · Dystonia 24
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cranio-cervical dystonia with laryngeal and upper-limb involvement | DYT24 · Dystonia 24 |
| fr | Dystonie cranio-cervicale avec atteinte du larynx et des membres supérieures | DYT24 · Dystonie 24 |
| de | Kraniozervikale Dystonie mit Beteiligung des Larynx und der oberen Extremitäten | DYT24 · Dystonie 24 |
| es | Distonía craneocervical con afectación laríngea y de las extremidades superiores | DYT24 · Distonía 24 |
| it | Distonia craniocervicale con interessamento della laringe e degli arti superiori | DYT24 · Distonia 24 |
| nl | Cranio-cervicale dystonie met betrokkenheid van larynx en bovenste ledematen | DYT24 · Dystonie 24 |
| pt | Distonia crânio - cervical com envolvimento laríngeo e dos membros superiores | |
| pl | Dystonia czaszkowo-szyjna z zajęciem krtani i kończyn górnych | Dystonia 24 · DYT24 |
| cs | Kraniocervikální dystonie s postižením hrtanu a horních končetin | DYT24 · Dystonie 24 |
| uk | Краніо-цервікальна дистонія з ураженням гортані та верхніх кінцівок | Дистонія 24 · DYT24 |
| zh | 颅颈部肌张力障碍伴喉及上肢受累 | 张力异常24型 |
| tr | Laringeal ve üst ekstremite tutulumu ile seyreden kraniyo-servikal distoni | DYT24 · Distoni 24 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615034 | E | validated | |
| ICD-10 | G24.8 | NTBT | attributed | validated |
| MONDO | 0014019 | E | validated | |
| UMLS | C3554374 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1866Focal, segmental or multifocal dystonia
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANO3 | Disease-causing germline mutation(s) in | Assessed | HGNC:14004 | ENSG00000134343 | 610110 | 11p14.2 | anoctamin 3 | 23200863[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
9 annotations · validated 2018-06-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000643 | Blepharospasm | |
| HP:0002451 | Limb dystonia | |
| HP:0000473 | Torticollis | |
| HP:0012477 | Vocal tremor | |
| Occasional (29-5%) | ||
| HP:0001600 | Abnormality of the larynx | |
| HP:0002378 | Hand tremor | |
| HP:0001336 | Myoclonus | |
| HP:0012048 | Oromandibular dystonia | |
| HP:0007351 | Upper limb postural tremor | |
Annotation source: 11009204[PMID]_23200863[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/420485
- This record as JSON: /data/d/420485.json