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hereditary hyperekplexia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary hyperekplexia

MONDO:0021022

Also known as:hyperekplexiaKok diseaseStiff baby syndrome

Find Clinical TrialsTrials

Overview

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

OnsetANTENATAL, CONGENITAL, NEONATAL

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 very common findings: Ataxia, Spasticity, Hypertonia, and Sudden, brief involuntary muscle jerks (myoclonus) and others; and common findings: Difficulty walking (gait disturbance), Umbilical hernia, Sleep disturbance, and Hernia. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Ataxia, Spasticity, Sudden, brief involuntary muscle jerks (myoclonus)

Prognosis

Phenotype severity distribution: 13 very common features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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. Research is primarily sponsored by academic and government institutions.

35 publications have been identified in PubMed for hereditary hyperekplexia. Research spans Case Report / Case Series (57%), Basic Science / Preclinical (23%), and Review / Meta-Analysis (11%).

Research Type	Count	% of Total
Patient case studies	20	57%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:28 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3197

GARD

Genetic and Rare Diseases Info Center

GARD:3129

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

hereditary hyperekplexia

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hereditary hyperekplexia

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications