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polyglucosan body myopathy type 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polyglucosan body myopathy type 2

MONDO:0014526

Also known as:GYG1 polyglucosan body myopathypolyglucosan body myopathy caused by mutation in GYG1PGBM2

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Overview

Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.

GeneticsAutosomal recessive · GYG1 (chr 3)

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (5 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 always present findings: Muscle fiber polyglucosan inclusion bodies and Muscle fiber inclusion bodies; and very common findings: Pelvic girdle muscle weakness. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	9	Hand muscle weakness, Peroneal muscle weakness, Distal muscle weakness

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GYG1 encodes glycogenin 1 (350 aa). Glycogenin participates in the glycogen biosynthetic process along with glycogen synthase and glycogen branching enzyme. Highest expression in Muscle Skeletal (247.7 TPM) and Colon Sigmoid (168.1 TPM).

Polyglucosan body myopathy type 2 is caused by mutations in the GYG1 gene on chromosome 3.

The GYG1 protein participates in oligo((1,4)-alpha-glucosyl) GYG1 and EPM2A:PPP1R3C:phosphoglycogen-GYG1:GYS1-a tetramer pathways.

GYG1 is classified as a druggable target (Enzyme category) with score 6.5.

Diagnosis

Genetic testing for GYG1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for polyglucosan body myopathy type 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 2 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.

6 publications have been identified in PubMed for polyglucosan body myopathy type 2. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (40%), and Diagnostic / Biomarker (20%).

Recent Publications

Panwar D (2026). [PMID: 42023422](https://pubmed.ncbi.nlm.nih.gov/42023422/). *Clin Genet*. [Diagnostic / Biomarker]
Visuttijai K (2026). [PMID: 42165248](https://pubmed.ncbi.nlm.nih.gov/42165248/). *J Clin Endocrinol Metab*. [Basic Science / Preclinical]
Visuttijai K (2024). [PMID: 38923610](https://pubmed.ncbi.nlm.nih.gov/38923610/). *Neuropathology and applied neurobiology*. [Basic Science / Preclinical]
Colpaert M (2024). [PMID: 39277505](https://pubmed.ncbi.nlm.nih.gov/39277505/). *Neurotherapeutics*. [Review / Meta-Analysis]
Mishra K (2024). [PMID: 39334863](https://pubmed.ncbi.nlm.nih.gov/39334863/). *Biomolecules*. [Review / Meta-Analysis]

Data assembled from 8 of 12 sources · Last updated Sep 18, 2026, 7:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616199

Orphanet

European rare disease database

Orphanet:456369

GARD

Genetic and Rare Diseases Info Center

GARD:17793

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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polyglucosan body myopathy type 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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