ORPHA:370103
Primary dystonia, DYT17 type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary dystonia, DYT17 type | |
| fr | Dystonie primaire type DYT17 | |
| de | Dystonie, primäre, Typ DYT17 | |
| es | Distonía primaria tipo DYT17 | |
| it | Distonia primitiva tipo DYT17 | |
| nl | Primaire dystonie, DYT17-type | |
| pt | Distonia primária, tipoDYT17 | |
| pl | Dystonia pierwotna, typ DYT17 | |
| cs | Primární dystonie, typ DYT17 | |
| uk | Первинна дистонія, тип DYT17 | |
| zh | 原发性肌张力障碍DYT17型 | |
| tr | Primer distoni, DYT17 tipi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612406 | E | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| ICD-11 | 8A02.0Y | NTBT | attributed | validated |
| MONDO | 0012895 | E | validated | |
| UMLS | C5190526 | 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DYT17 | Disease-causing germline mutation(s) in | Assessed | HGNC:35416 | 20p11.22-q13.12 | dystonia 17 | 18688663[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 18688663[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18688663[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
7 annotations · validated 2018-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001260 | Dysarthria | |
| HP:0001618 | Dysphonia | |
| HP:0007325 | Generalized dystonia | |
| Frequent (79-30%) | ||
| HP:0012179 | Craniofacial dystonia | |
| HP:0000473 | Torticollis | |
| Excluded (0%) | ||
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001300 | Parkinsonism | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 18688663[PMID]_24952478[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370103
- This record as JSON: /data/d/370103.json