Primary dystonia, DYT13 type
Synonyms: DYT13 · Primary dystonia with mixed phenotype · Primary torsion dystonia with predominant craniocervical or upper limb onset
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary dystonia, DYT13 type | DYT13 · Primary dystonia with mixed phenotype · Primary torsion dystonia with predominant craniocervical or upper limb onset |
| fr | Dystonie primaire type DYT13 | DYT13 · Dystonie primaire à début cranio-cervical ou par les membres supérieurs · Dystonie primaire à phénotype mixte |
| de | Dystonie, primäre, Typ DYT13 | DYT13 · Primäre Dystonie mit gemischtem Phänotyp · Primäre Torsions-Dystonie mit überwiegendem Beginn im kraniozervikalen Bereich oder in den Armen |
| es | Distonía primaria tipo DYT13 | Distonía primaria con fenotipo mixto |
| it | Distonia primaria, tipo DYT13 | DYT13 · Distonia primaria con fenotipo misto · Distonia primaria di torsione a esordio prevalentemente craniocervicale o nell'arto superiore · Distonia primaria segmentale craniocervicale a esordio precoce |
| nl | Primaire dystonie, DYT13-type | DYT13 · Primaire dystonie met gemengd fenotype · Primaire torsiedystonie met voornamelijk craniocervicale of bovenste ledematen-aanvang |
| pt | Distonia de torção primária segmentar craniocervical de início precoce | |
| pl | Dystonia pierwotna, typ DYT13 | = en |
| cs | Primární dystonie, typ DYT13 | DYT13 · Primární dystonie se smíšeným fenotypem · Primární torzní dystonie s predominantním nástupem kraniocervikálním nebo na horní končetině |
| uk | Первинна дистонія, тип DYT13 | DYT13 · Первинна дистонія зі змішаним фенотипом · Первинна торсійна дистонія з переважним ураженням краніо-цервікального відділу або верхніх кінцівок |
| zh | 原发性肌张力障碍DYT13型 | 主要为颅颈或上肢发作的原发性扭转肌张力障碍 |
| tr | Primer distoni, DYT13 tipi | DYT13 · Karma fenotipli primer distoni · Baskın kraniyoservikal veya üst ekstremite başlangıcı ile seyreden primer torsiyon distonisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607671 | E | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| ICD-11 | 8A02.0Y | NTBT | index | validated |
| MONDO | 0011886 | E | validated | |
| MeSH | C564354 | E | validated | |
| UMLS | C1843264 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1866Focal, segmental or multifocal dystonia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DYT13 | Disease-causing germline mutation(s) in | Assessed | HGNC:3101 | 1p36 | dystonia 13, torsion | 11261511[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9120448[PMID] |
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 9120448[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.
HPO phenotypes
14 annotations · validated 2017-04-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0004305 | Involuntary movements | |
| HP:0002172 | Postural instability | |
| HP:0001304 | Torsion dystonia | |
| HP:0000473 | Torticollis | |
| Frequent (79-30%) | ||
| HP:0012179 | Craniofacial dystonia | |
| HP:0001332 | Dystonia | |
| HP:0006961 | Jerky head movements | |
| HP:0002451 | Limb dystonia | |
| Occasional (29-5%) | ||
| HP:0002345 | Action tremor | |
| HP:0004373 | Focal dystonia | |
| HP:0002174 | Postural tremor | |
| Very rare (<4-1%) | ||
| HP:0007325 | Generalized dystonia | |
| HP:0001609 | Hoarse voice | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 9120448[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98807
- This record as JSON: /data/d/98807.json