Focal, segmental or multifocal dystonia
diseaseOn this page
Summary
Focal, segmental or multifocal dystonia (MONDO:0015990) is a disease (an umbrella term covering 12 Mondo subtypes). A subtype of isolated dystonia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-5 / 10 000 (Serbia) [Orphanet-validated]
- Umbrella term: 12 Mondo subtypes
Clinical features
Epidemiology
Prevalence records
8 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 11.2 | Serbia | Validated |
| Point prevalence | 1-5 / 10 000 | 31.2 | Iceland | Validated |
| Point prevalence | 1-5 / 10 000 | 29.5 | United States | Validated |
| Point prevalence | 1-5 / 10 000 | 13.7 | Japan | Validated |
| Point prevalence | 1-5 / 10 000 | 10 | Egypt | Validated |
| Point prevalence | 1-5 / 10 000 | 14.3 | Thailand | Validated |
| Annual incidence | 1-9 / 100 000 | 2 | Europe | Not yet validated |
| Point prevalence | 1-5 / 10 000 | 11.7 | Europe | Not yet validated |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | focal, segmental or multifocal dystonia |
| Mondo ID | MONDO:0015990 |
| Orphanet | 1866 |
| UMLS | C5680914 |
| MedGen | 1842644 |
| GARD | 0018749 |
| Is cancer (heuristic) | no |
Disease family
This is a subtype of isolated 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
Related subtypes (1): generalized dystonia
Subtypes (12): torsion dystonia 4, torsion dystonia 2, torsion dystonia 13, 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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.