ORPHA:1866
Focal, segmental or multifocal dystonia
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Focal, segmental or multifocal dystonia | |
| fr | Dystonie focale, segmentaire ou multifocale | Dystonie localisée |
| de | Fokale, segmentale oder multifokale Dystonie | |
| es | Distonía focal, segmentaria o multifocal | |
| it | Distonia focale, segmentale o multifocale | |
| nl | Focale, segmentale of multifocale dystonie | |
| pt | Distonia focal, segmentar ou multifocal | |
| pl | Dystonia ogniskowa, odcinkowa lub wieloogniskowa | |
| cs | Fokální, segmentální nebo multifokální dystonie | |
| uk | Фокальна, сегментарна або мультифокальна дистонія | |
| zh | 局灶性、节段性或多灶性肌张力障碍 | |
| tr | Fokal, segmental veya multifokal distoni |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0015990 | E | validated | |
| MONDO | 15990 | E | validated | |
| UMLS | C5680914 | 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:156159Isolated dystonia
rare genetic diseases; rare neurological diseases
Children (11):
- ORPHA:420492Adult-onset cervical dystonia, DYT23 type
- ORPHA:329466Autosomal dominant focal dystonia, DYT25 type
- ORPHA:93964Blepharospasm-oromandibular dystonia syndrome
- ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvement
- ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvement
- ORPHA:93958Oromandibular dystonia
- ORPHA:98807Primary dystonia, DYT13 type
- ORPHA:370103Primary dystonia, DYT17 type
- ORPHA:99657Primary dystonia, DYT2 type
- ORPHA:464440Primary dystonia, DYT27 type
- ORPHA:98805Primary dystonia, DYT4 type
Codes that Orphanet moved or referred to this one:
- ORPHA:93955OBSOLETE: Benign essential blepharospasm referred to · inactive
- ORPHA:93956OBSOLETE: Truncal dystonia referred to · inactive
- ORPHA:93957OBSOLETE: Limb dystonia referred to · inactive
- ORPHA:93961OBSOLETE: Laryngeal dyskinesia referred to · inactive
- ORPHA:93962OBSOLETE: Cervical dystonia referred to · inactive
- ORPHA:93963OBSOLETE: Autosomal dominant focal dystonia, DYT7 type referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-5 / 10 000 | 11.7 / 100 000 | Europe | Value and class | Not yet validated | 11127535[PMID] |
| Point prevalence | 1-5 / 10 000 | 11.2 / 100 000 | Serbia | Value and class | Validated | 14639690[PMID] |
| Point prevalence | 1-5 / 10 000 | 31.2 / 100 000 | Iceland | Value and class | Validated | 16211610[PMID] |
| Point prevalence | 1-5 / 10 000 | 29.5 / 100 000 | United States | Value and class | Validated | 3264051[PMID] |
| Point prevalence | 1-5 / 10 000 | 13.7 / 100 000 | Japan | Value and class | Validated | 16755586[PMID] |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Egypt | Value and class | Validated | 7969703[PMID] |
| Point prevalence | 1-5 / 10 000 | 14.3 / 100 000 | Thailand | Value and class | Validated | 21999890[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1866
- This record as JSON: /data/d/1866.json