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dystonia 35, childhood-onset (DYT35) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dystonia 35, childhood-onset

MONDO:0030958

Also known as:DYT35

Overview

GeneticsAutosomal recessive · SHQ1 (chr 3)

OnsetINFANTILE

ResearchLimited published research (5 articles)

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 always present findings: Dystonia. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Dystonia, Global developmental delay, Intellectual disability

Age of onset: infancy.

Explore clinical features

Genetic Landscape

SHQ1 function has not been fully characterized.

Dystonia 35, childhood-onset is associated with mutations in the SHQ1 gene on chromosome 3.

Diagnosis

Genetic testing for SHQ1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 dystonia 35, childhood-onset.

5 publications have been identified in PubMed for dystonia 35, childhood-onset. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Epidemiology / Natural History (20%).

Recent Publications

Kansal B (2026). [PMID: 41498396](https://pubmed.ncbi.nlm.nih.gov/41498396/). *Mov Disord Clin Pract*. [Epidemiology / Natural History]
Lim TT (2026). [PMID: 42033811](https://pubmed.ncbi.nlm.nih.gov/42033811/). *Acta Neurol Taiwan*. [Case Report / Case Series]
Thomsen M (2025). [PMID: 40533913](https://pubmed.ncbi.nlm.nih.gov/40533913/). *Ann Clin Transl Neurol*. [Basic Science / Preclinical]
Zech M (2025). [PMID: 39937650](https://pubmed.ncbi.nlm.nih.gov/39937650/). *Brain*. [Basic Science / Preclinical]
Kacem I (2025). [PMID: 39531950](https://pubmed.ncbi.nlm.nih.gov/39531950/). *Parkinsonism Relat Disord*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619921

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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dystonia 35, childhood-onset

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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