Primary dystonia, DYT2 type
Synonyms: DYT2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare isolated dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary dystonia, DYT2 type | DYT2 |
| fr | Dystonie primaire type DYT2 | = en |
| de | Dystonie, primäre, Typ DYT2 | |
| es | Distonía primaria tipo DYT2 | |
| it | Distonia primaria, tipo DYT2 | |
| nl | Primaire dystonie, DYT2-type | = en |
| pt | Distonia primária de torção, autossómica recessiva | |
| pl | Dystonia pierwotna, typ DYT2 | = en |
| cs | Primární dystonie, typ DYT2 | = en |
| uk | Первинна дистонія, тип DYT2 | = en |
| zh | 原发性肌张力障碍DYT2型 | = en |
| tr | Primer distoni, DYT2 tipi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 224500 | E | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| ICD-11 | 8A02.0Y | NTBT | index | validated |
| MONDO | 0009141 | E | validated | |
| MONDO | 9141 | E | validated | |
| MeSH | C538006 | E | validated | |
| UMLS | C1857093 | E | validated | |
| GARD | 2028 | 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 |
|---|---|---|---|---|---|---|---|---|
| HPCA | Disease-causing germline mutation(s) in | Assessed | HGNC:5144 | ENSG00000121905 | 142622 | 1p35.1 | hippocalcin | 25799108[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
10 annotations · validated 2018-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001304 | Torsion dystonia | |
| Frequent (79-30%) | ||
| HP:0000643 | Blepharospasm | |
| HP:0001260 | Dysarthria | |
| HP:0011968 | Feeding difficulties | |
| HP:0001288 | Gait disturbance | |
| HP:0004305 | Involuntary movements | |
| HP:0002451 | Limb dystonia | |
| HP:0000473 | Torticollis | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0007325 | Generalized dystonia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 941766[PMID]_20482602[PMID]_2404852[PMID]_11912106[PMID]_25799108[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99657
- This record as JSON: /data/d/99657.json