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

Rare Disease

fingerprint body myopathy

MONDO:0010591

Overview

Fingerprint body myopathy is a congenital benign muscle disorder characterized by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.

GeneticsX-linked

ResearchLimited published research (5 articles)

Clinical Presentation

Features include: Myopathy and Abnormality of metabolism/homeostasis.

Organ System	Phenotype Count	Example Features
Muscles	1	Myopathy
Metabolism	1	Abnormality of metabolism/homeostasis

Explore clinical features

Prognosis

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 fingerprint body myopathy.

5 publications have been identified in PubMed for fingerprint body myopathy. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (40%), and Case Report / Case Series (20%).

Recent Publications

Pauper M (2025). [PMID: 39858524](https://pubmed.ncbi.nlm.nih.gov/39858524/). *Biomolecules*. [Review / Meta-Analysis]
Cantó-Santos J (2025). [PMID: 39985015](https://pubmed.ncbi.nlm.nih.gov/39985015/). *Acta Neuropathol Commun*. [Basic Science / Preclinical]
Gervasoni J (2024). [PMID: 38732076](https://pubmed.ncbi.nlm.nih.gov/38732076/). *Int J Mol Sci*. [Review / Meta-Analysis]
Haliloğlu G (2024). [PMID: 39967430](https://pubmed.ncbi.nlm.nih.gov/39967430/). *J Neuromuscul Dis*. [Case Report / Case Series]
Manis C (2024). [PMID: 39519852](https://pubmed.ncbi.nlm.nih.gov/39519852/). *Molecules*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:305550

Orphanet

European rare disease database

Orphanet:97232

GARD

Genetic and Rare Diseases Info Center

GARD:12720

Questions for Your Care Team

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

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team