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

myopathy, centronuclear, 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, centronuclear, 5

MONDO:0014418

Also known as:SPEG autosomal recessive centronuclear myopathyautosomal recessive centronuclear myopathy caused by mutation in SPEGcentronuclear myopathy 5

Overview

Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.

GeneticsAutosomal recessive · SPEG (chr 2)

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 always present findings: Centrally nucleated skeletal muscle fibers, Motor delay, High palate, and Muscle weakness; and common findings: Axial hypotonia, Narrow mouth, Bifid uvula, and Hip contracture and others. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	8	Axial hypotonia, Centrally nucleated skeletal muscle fibers, Hip contracture

Genetic Landscape

SPEG function has not been fully characterized.

Myopathy, centronuclear, 5 is caused by mutations in the SPEG gene on chromosome 2.

Diagnosis

Genetic testing for SPEG is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 13 common features.

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 myopathy, centronuclear, 5.

31 publications have been identified in PubMed for myopathy, centronuclear, 5. Research spans Basic Science / Preclinical (45%), Case Report / Case Series (32%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Laboratory research	14	45%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:34 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615959

GARD

Genetic and Rare Diseases Info Center

GARD:16035

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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

Kisho

myopathy, centronuclear, 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

myopathy, centronuclear, 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications