ORPHA:93958
Oromandibular dystonia
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
A form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oromandibular dystonia | |
| fr | Dystonie oromandibulaire | |
| de | Dystonie, oromandibuläre | |
| es | Distonía oromandibular | |
| it | Distonia oromandibolare | |
| nl | Oromandibulaire dystonie | |
| pt | Distonia oromandibular | |
| pl | Dystonia ustno-żuchwowa | |
| cs | Oromandibulární dystonie | |
| uk | Оромандибулярна дистонія | |
| zh | 口下颌肌张力障碍 | |
| tr | Oromandibular distoni |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G24.4 | E | specific | validated |
| ICD-11 | 8A02.0Y | NTBT | index | validated |
| MONDO | 0019771 | E | validated | |
| UMLS | C2242577 | E | validated | |
| MedDRA | 10067954 | 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
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
21 annotations · validated 2018-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000277 | Abnormality of the mandible | |
| HP:0010754 | Abnormality of the temporomandibular joint | |
| HP:0000716 | Depression | |
| HP:0002015 | Dysphagia | |
| HP:0001618 | Dysphonia | |
| HP:0005216 | Impaired mastication | |
| HP:0012531 | Pain | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0000159 | Abnormal lip morphology | |
| HP:0000366 | Abnormality of the nose | |
| HP:0000643 | Blepharospasm | |
| HP:0003763 | Bruxism | |
| HP:0000273 | Facial grimacing | |
| HP:0007325 | Generalized dystonia | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0012049 | Laryngeal dystonia | |
| HP:0031008 | Lingual dystonia | |
| HP:0000473 | Torticollis | |
| Very rare (<4-1%) | ||
| HP:0001260 | Dysarthria | |
| HP:0002451 | Limb dystonia | |
| HP:0002098 | Respiratory distress | |
Annotation source: 28620630[PMID]_29860784[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93958
- This record as JSON: /data/d/93958.json