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zebra body myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

zebra body myopathy

MONDO:0019949

Overview

ResearchLimited published research (3 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 very common findings: Neck muscle weakness, Torticollis, Global developmental delay, and Neonatal hypotonia and others; and common findings: Muscle fiber necrosis.

Organ System	Phenotype Count	Example Features
Muscles	13	Neck muscle weakness, Neonatal hypotonia, Distal muscle weakness

Diagnosis

Biomarker and diagnostic research for zebra body myopathy has been reported in the published literature.

Prognosis

Phenotype severity distribution: 21 very common features, 1 common feature.

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.

No clinical trials have been registered for zebra body myopathy.

3 publications have been identified in PubMed for zebra body myopathy. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Case Report / Case Series (33%).

Recent Publications

Ogawa-Momohara M (2025). [PMID: 39394957](https://pubmed.ncbi.nlm.nih.gov/39394957/). *Immunol Med*. [Review / Meta-Analysis]
Huang L (2024). [PMID: 39624401](https://pubmed.ncbi.nlm.nih.gov/39624401/). *J Inflamm Res*. [Diagnostic / Biomarker]
Ngo DQ (2024). [PMID: 38910358](https://pubmed.ncbi.nlm.nih.gov/38910358/). *J Pathol Transl Med*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 9:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:97240

GARD

Genetic and Rare Diseases Info Center

GARD:19354

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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zebra body myopathy

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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