Primary dystonia, DYT6 type
Synonyms: DYT6 · Generalized cervical and upper-limb-onset dystonia · Idiopathic torsion dystonia of mixed type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare genetic movement disorder characterized by dystonia affecting at first an upper limb, less frequently beginning in the head and neck region, before slowly spreading to other locations. The clinical spectrum, like age of onset, is variable with focal, segmental, or generalized distribution, but cranial involvement with speech difficulties and cervical involvement are typical, whereas lower limbs are often spared. With progression of the disease, many patients suffer from generalized dystonia while mostly remaining ambulatory.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary dystonia, DYT6 type | DYT6 · Generalized cervical and upper-limb-onset dystonia · Idiopathic torsion dystonia of mixed type |
| fr | Dystonie primaire type DYT6 | DYT6 · Dystonie de torsion idiopathique mixte · Dystonie généralisée débutant au niveau des cervicales et des membres supérieurs |
| de | Dystonie, primäre, Typ DYT6 | DYT6 · Generalisierte zervikale Dystonie mit überwiegendem Beginn in den oberen Extremitäten · Torsionsdystonie, idiopathische, gemischter Typ |
| es | Distonía primaria tipo DYT6 | DYT6 · Distonía de torsión idiopática tipo mixto · Distonía generalizada de aparición cervical y en extremidades superiores |
| it | Distonia primitiva tipo DYT6 | DYT6 · Distonia generalizzata a esordio negli arti superiori e a livello cervicale · Distonia idiopatica di torsione, tipo "misto" · Distonia idiopatica di torsione, tipo misto |
| nl | Primaire dystonie, DYT6-type | DYT6 · Gegeneraliseerde dystonie met aanvang in de nek en bovenste ledematen · Idiopathische torsiedystonie van het gemengde type |
| pt | Distonia idiopática de torção do tipo misto de início no adulto | |
| pl | Dystonia pierwotna, typ DYT6 | Dystonia uogólniona rozpoczynająca się od szyi i kończyn górnych · DYT6 · Idiopatyczna dystonia torsyjna typu mieszanego |
| cs | Primární dystonie, typ DYT6 | DYT6 |
| uk | Первинна дистонія, тип DYT6 | DYT6 · Генералізована шийна дистонія та дистонія верхніх кінцівок · Ідіопатична торсійна дистонія змішаного типу |
| zh | 原发性肌张力障碍DYT6型 | 广泛性颈和上肢发作性肌张力障碍 |
| tr | Primer distoni, DYT6 tipi | DYT6 · Karma tipte idiyopatik torsiyon distonisi · Jeneralize servikal ve üst ekstremite başlangıçlı distoni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602629 | E | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| ICD-11 | 8A02.0Y | NTBT | index | validated |
| MONDO | 0011264 | E | validated | |
| MeSH | C538003 | E | validated | |
| UMLS | C1414216 | E | validated | |
| GARD | 9630 | 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:376724Generalized isolated dystonia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| THAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:20856 | ENSG00000131931 | 609520 | 8p11.21 | THAP domain containing 1 | 20301334[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19345147[PMID]_21110056[PMID] |
| Cases/families | 53 cases | Worldwide | Case(s) | Validated | 19345147[PMID]_21110056[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
9 annotations · validated 2018-03-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001332 | Dystonia | |
| HP:0007325 | Generalized dystonia | |
| Frequent (79-30%) | ||
| HP:0001260 | Dysarthria | |
| Occasional (29-5%) | ||
| HP:0000643 | Blepharospasm | |
| HP:0012179 | Craniofacial dystonia | |
| HP:0012049 | Laryngeal dystonia | |
| HP:0031008 | Lingual dystonia | |
| HP:0000473 | Torticollis | |
| Very rare (<4-1%) | ||
| HP:0002451 | Limb dystonia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 17702011[PMID]_21110056[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98806
- This record as JSON: /data/d/98806.json