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oromandibular dystonia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oromandibular dystonia

MONDO:0019771

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Overview

Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Abnormal mandible morphology, Depression, Dysphonia, and Weight loss and others; and sometimes findings: Abnormal lip morphology, Facial grimacing, Abnormality of the nose, and Torticollis and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Depression, Dysphonia, Difficulty swallowing (dysphagia)

Diagnosis

Biomarker and diagnostic research for oromandibular dystonia has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions and procedural interventions. Research is primarily sponsored by academic and government institutions.

50 publications have been identified in PubMed for oromandibular dystonia. Kisho has analyzed 27 by research type. Research spans Case Report / Case Series (37%), Basic Science / Preclinical (19%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Patient case studies	10

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 9:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:93958

GARD

Genetic and Rare Diseases Info Center

GARD:19243

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

oromandibular dystonia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

oromandibular dystonia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications