raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:329466

Autosomal dominant focal dystonia, DYT25 type

Synonyms: DYT25 · Dystonia 25

Type
Disease
Group
Disorder
Inheritance
Autosomal dominant
Age of onset
Adult
Status
active

A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAutosomal dominant focal dystonia, DYT25 typeDYT25 · Dystonia 25
frDystonie focale autosomique dominante, type DYT25DYT25 · Dystonie 25
deDystonie, fokale, autosomal-dominante, Typ DYT25DYT25 · Dystonie 25
esDistonía focal autosómica dominante tipo DYT25DYT25 · Distonía DYT25
itDistonia focale autosomica dominante, DYT25
nlAutosomaal dominante focale dystonie, DYT25-typeDYT25 · Dystonie 25
ptDistonia focal autossómica dominante, tipo DYT25
plAutosomalna dominująca dystonia ogniskowa, DYT25= en
csAutozomálně dominantní izolovaná dystonie, DYT25= en
ukАутосомно-домінантна фокальна дистонія, тип DYT25Дистонія 25 · DYT25
zh常染色体显性局灶性肌张力障碍DYT25型肌张力障碍25
trOtozomal dominant fokal distoni, DYT25 tipi= en

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM615073Evalidated
ICD-10G24.1NTBTattributedvalidated
MONDO0014033Evalidated
UMLSC4304670Evalidated
GARD10667Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
GNALDisease-causing germline mutation(s) inAssessedHGNC:4388ENSG0000014140413931218p11.21G protein subunit alpha L23222958[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families28 casesWorldwideCase(s)Validated23222958[PMID]
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidatedORPHANET_23222958[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.

6

HPO phenotypes

7 annotations · validated 2018-04-09
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0004373Focal dystonia
Frequent (79-30%)
HP:0002530Axial dystonia
HP:0012179Craniofacial dystonia
HP:0012049Laryngeal dystonia
HP:0002451Limb dystonia
HP:0031008Lingual dystonia
HP:0000473Torticollis

Run the differential on the 1 obligate / very frequent terms

Annotation source: 8309575[PMID]_23222958[PMID]_24952478[PMID]

7

Sources for this card