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chorea, benign familial - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chorea, benign familial

MONDO:0008979

Also known as:benign hereditary choreachorea familial benign

Overview

Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.

GeneticsAutosomal recessive

ResearchLimited published research (8 articles)

Clinical Presentation

Features include: Chorea.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Chorea

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 chorea, benign familial.

8 publications have been identified in PubMed for chorea, benign familial. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (38%), and Epidemiology / Natural History (13%).

Recent Publications

Nou-Fontanet L (2026). [PMID: 41552915](https://pubmed.ncbi.nlm.nih.gov/41552915/). *Movement disorders : official journal of the Movement Disorder Society*. [Epidemiology / Natural History]
Aloisio S (2025). [PMID: 41423511](https://pubmed.ncbi.nlm.nih.gov/41423511/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Case Report / Case Series]
Wu R (2025). [PMID: 41053704](https://pubmed.ncbi.nlm.nih.gov/41053704/). *BMC pediatrics*. [Case Report / Case Series]
Michel K (2025). [PMID: 40395234](https://pubmed.ncbi.nlm.nih.gov/40395234/). *Frontiers in medicine*. [Review / Meta-Analysis]
Pérez-Pérez J (2025). [PMID: 41104576](https://pubmed.ncbi.nlm.nih.gov/41104576/). *European journal of neurology*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 10:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:215450

GARD

Genetic and Rare Diseases Info Center

GARD:1305

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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Kisho

chorea, benign familial

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Practical recommendations for the treatment of chorea associated with Huntington's disease: An expert consensus.

Cerebellar Ataxia and Chorea: Genetic Etiologies and Key Considerations for Diagnosis and Management.

chorea, benign familial

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

Latest News & Developments

Practical recommendations for the treatment of chorea associated with Huntington's disease: An expert consensus.

Cerebellar Ataxia and Chorea: Genetic Etiologies and Key Considerations for Diagnosis and Management.