Anismus
disease diseaseOn this page
Also known as anal region skeletal muscle focal dystoniadyskinetic puborectalisdyssynergic defecationfocal dystonia of anal region skeletal musclepuborectalis syndrome
Summary
Anismus (MONDO:0000480) is a disease and 7 clinical trials. A subtype of focal dystonia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Clinical trials: 7
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | anismus |
| Mondo ID | MONDO:0000480 |
| DOID | DOID:0050839 |
| SNOMED CT | 83605009 |
| UMLS | C0267601 |
| MedGen | 540810 |
| Anatomy (UBERON) | UBERON:0004832 |
| Is cancer (heuristic) | no |
Also known as: anal region skeletal muscle focal dystonia · dyskinetic puborectalis · dyssynergic defecation · focal dystonia of anal region skeletal muscle · puborectalis syndrome
Disease family
This is a subtype of focal 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 › focal dystonia › anismus
Related subtypes (11): cervical dystonia, focal hand dystonia, oculogyric crisis, spasmodic dystonia, craniofacial dystonia, X-linked dystonia-parkinsonism, torsion dystonia 7, benign essential blepharospasm, dystonia 23, oromandibular dystonia, dystonia, focal, task-specific
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: 7.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 6 |
| PHASE4 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00556283 | PHASE4 | COMPLETED | RCT: STARR vs Biofeedback |
| NCT05771597 | Not specified | RECRUITING | Home Biofeedback Therapy for Dyssynergic Defecation, Fecal Incontinence and Urinary Incontinence |
| NCT07225803 | Not specified | RECRUITING | Management of Dyssynergic Defecation |
| NCT00735605 | Not specified | COMPLETED | Comparative Study Between Surgical and Non Surgical Treatment of Anismus in Patients |
| NCT02633592 | Not specified | COMPLETED | Seated Evaluation of Anorectal funcTion by High Resolution Anorectal Manometry |
| NCT04155307 | Not specified | COMPLETED | Is the Evaluation of Anal Distensibility by Endoflip® Technique Useful for the Diagnosis of Anismus? |
| NCT04879524 | Not specified | COMPLETED | Infracoccygeal Botox for Dyssynergia |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.