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focal stiff limb syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

focal stiff limb syndrome

MONDO:0018629

Also known as:Stiff leg syndromefocal stiff-person syndrome

Overview

ResearchLimited published research (4 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 common findings: Agoraphobia, Difficulty walking (gait disturbance), Brisk reflexes, and Muscle stiffness (rigidity) and others; and sometimes findings: Anxiety, Joint stiffness, Freezing of gait, and Limb myoclonus and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Agoraphobia, Difficulty walking (gait disturbance), Muscle stiffness (rigidity)

Prognosis

Phenotype severity distribution: 10 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 focal stiff limb syndrome.

5 publications have been identified in PubMed for focal stiff limb syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Elmi AH (2026). [PMID: 42094178](https://pubmed.ncbi.nlm.nih.gov/42094178/). *Int Med Case Rep J*. [Case Report / Case Series]
Vidal-Jiménez E (2024). [PMID: 37909770](https://pubmed.ncbi.nlm.nih.gov/37909770/). *Physiother Theory Pract*. [Case Report / Case Series]
Wei M (2024). [PMID: 38871638](https://pubmed.ncbi.nlm.nih.gov/38871638/). *BMJ Case Rep*. [Case Report / Case Series]
Khalil N (2024). [PMID: 39163161](https://pubmed.ncbi.nlm.nih.gov/39163161/). *J Clin Neuromuscul Dis*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:443804

GARD

Genetic and Rare Diseases Info Center

GARD:17756

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?

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Kisho

focal stiff limb syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Exteroceptive Reflexes in Stiff Person Syndrome, Other Neurological Conditions and Healthy Controls.

New RA cell therapy clears disease-driving B cells in early trial

Kyverna CAR-T therapy for stiff person syndrome nears approval

Sjögren's Disease and Stiff Person Syndrome: A case series highlighting a rare but significant autoimmune overlap.

focal stiff limb syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Exteroceptive Reflexes in Stiff Person Syndrome, Other Neurological Conditions and Healthy Controls.

New RA cell therapy clears disease-driving B cells in early trial

Kyverna CAR-T therapy for stiff person syndrome nears approval

Sjögren's Disease and Stiff Person Syndrome: A case series highlighting a rare but significant autoimmune overlap.