Torsion dystonia 13

Summary

Torsion dystonia 13 (MONDO:0011886) is a disease. A subtype of focal, segmental or multifocal dystonia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 14

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		8	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

14 HPO clinical features (Orphanet curated; top 14 by frequency):

HPO ID	Term	Frequency
HP:0000473	Torticollis	Very frequent (80-99%)
HP:0000733	Abnormal repetitive mannerisms	Very frequent (80-99%)
HP:0001304	Torsion dystonia	Very frequent (80-99%)
HP:0002172	Postural instability	Very frequent (80-99%)
HP:0004305	Involuntary movements	Very frequent (80-99%)
HP:0001332	Dystonia	Frequent (30-79%)
HP:0002451	Limb dystonia	Frequent (30-79%)
HP:0006961	Jerky head movements	Frequent (30-79%)
HP:0012179	Craniofacial dystonia	Frequent (30-79%)
HP:0004373	Focal dystonia	Occasional (5-29%)
HP:0002174	Postural tremor	Occasional (5-29%)
HP:0002345	Action tremor	Occasional (5-29%)
HP:0001609	Hoarse voice	Very rare (<1-4%)
HP:0007325	Generalized dystonia	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	torsion dystonia 13
Mondo ID	MONDO:0011886
MeSH	C564354
OMIM	607671
Orphanet	98807
DOID	DOID:0090037
SNOMED CT	719278006
UMLS	C1843264
MedGen	335918
GARD	0010537
Is cancer (heuristic)	no

Also known as: dystonia 13, torsion, autosomal dominant · DYT13 · primary dystonia with mixed phenotype · primary torsion dystonia with predominant craniocervical or upper limb onset · torsion dystonia type 13

Disease family

This is a subtype of focal, segmental or multifocal dystonia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › movement disorder › extrapyramidal and movement disease › dystonic disorder › inherited dystonia › isolated dystonia › focal, segmental or multifocal dystonia › torsion dystonia 13

Related subtypes (11): torsion dystonia 4, torsion dystonia 2, torsion dystonia 17, dystonia 23, dystonia 24, dystonia 25, dystonia 27, oromandibular dystonia, blepharospasm-oromandibular dystonia syndrome, infantile-onset generalized dyskinesia with orofacial involvement, adult-onset segmental dystonia

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.