Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

congenital fiber-type disproportion myopathy (CFTDM) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital fiber-type disproportion myopathy

MONDO:0009711

Also known as:CFTDMcongenital fiber-type disproportioncongenital myopathy with fiber type disproportion

Find Clinical TrialsTrials

Overview

A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.

Clinical Trials2 registered · 1 recruiting

ResearchLimited published research (7 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: Low muscle tone (hypotonia), Progressive muscle weakness, and Type 1 muscle fiber atrophy; and common findings: High palate, Dental crowding, Motor delay, and Areflexia and others. 59 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	20	Low muscle tone (hypotonia), Progressive muscle weakness, Type 1 muscle fiber atrophy

Prognosis

Phenotype severity distribution: 3 very common features, 21 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.

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

7 publications have been identified in PubMed for congenital fiber-type disproportion myopathy. Research spans Case Report / Case Series (71%), Other (14%), and Review / Meta-Analysis (14%).

Recent Publications

Martins AP (2026). [PMID: 42275936](https://pubmed.ncbi.nlm.nih.gov/42275936/). *Neuromuscul Disord*. [Case Report / Case Series]
Barp A (2025). [PMID: 41199729](https://pubmed.ncbi.nlm.nih.gov/41199729/). *Acta Myol*. [Case Report / Case Series]
Woods M (2025). [PMID: 40450412](https://pubmed.ncbi.nlm.nih.gov/40450412/). *Neuromuscul Disord*. [Review / Meta-Analysis]
Fan S (2025). [PMID: 40115162](https://pubmed.ncbi.nlm.nih.gov/40115162/). *Mol Genet Metab Rep*. [Case Report / Case Series]
Pasolini MP (2025). [PMID: 40559795](https://pubmed.ncbi.nlm.nih.gov/40559795/). *Vet Sci*. [Other]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 2:07 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2020

GARD

Genetic and Rare Diseases Info Center

GARD:6161

Questions for Your Care Team

→Are any of the 2 active clinical trials 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?

← Back to All Diseases

congenital fiber-type disproportion myopathy

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