Segmental dystonia

Summary

Segmental dystonia (MONDO:0000479) is a disease and 1 clinical trial. A subtype of dystonic disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	segmental dystonia
Mondo ID	MONDO:0000479
DOID	DOID:0050838
SNOMED CT	427945008
UMLS	C1997740
MedGen	744778
GARD	0027528
Is cancer (heuristic)	no

Disease family

This is a subtype of dystonic disorder. 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 › segmental dystonia

Related subtypes (7): focal dystonia, multifocal dystonia, hemidystonia-hemiatrophy syndrome, nocturnal paroxysmal dystonia, inherited dystonia, idiopathic torsion dystonia, torsion dystonia

Subtypes (2): dystonia 27, 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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02509338	Not specified	TERMINATED	Validation of the Implantation of a New Electrode for the Treatment of Dystonia