Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

torsion dystonia with onset in infancy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

torsion dystonia with onset in infancy

MONDO:0011249

Overview

A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.

GeneticsAutosomal dominant

ResearchLimited published research (2 articles)

Clinical Presentation

Features include: Torsion dystonia.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Torsion dystonia

Explore clinical 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.

No clinical trials have been registered for torsion dystonia with onset in infancy.

3 publications have been identified in PubMed for torsion dystonia with onset in infancy. Kisho has analyzed 2 by research type. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Thaller M (2025). [PMID: 40190371](https://pubmed.ncbi.nlm.nih.gov/40190371/). *Neuro-ophthalmology (Aeolus Press)*. [Case Report / Case Series]
Rasera A (2024). [PMID: 39057929](https://pubmed.ncbi.nlm.nih.gov/39057929/). *Toxins*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602554

GARD

Genetic and Rare Diseases Info Center

GARD:9631

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

torsion dystonia with onset in infancy

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team