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myopathy, epilepsy, and progressive cerebral atrophy (MEPCA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, epilepsy, and progressive cerebral atrophy

MONDO:0033619

Also known as:MEPCA

Overview

GeneticsAutosomal recessive · ALG14 (chr 1)

OnsetCONGENITAL, ANTENATAL, NEONATAL

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: Severe muscular hypotonia, Brain shrinkage (cerebral atrophy), and Decreased fetal movement; and very common findings: Delayed CNS myelination. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Type 2 muscle fiber atrophy, Severe muscular hypotonia, Type 2 muscle fiber predominance

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.

ALG14 encodes ALG14 UDP-N-acetylglucosaminyltransferase subunit (216 aa). Part of the UDP-N-acetylglucosamine transferase complex that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. Highest expression in Adrenal Gland (4.3 TPM) and Nerve Tibial (3.6 TPM).

Myopathy, epilepsy, and progressive cerebral atrophy is associated with mutations in the ALG14 gene on chromosome 1.

The ALG14 protein participates in Defective ALG14 causes ALG14-CMS, Defective ALG2 causes CDG-1i, and Defective ALG14 does not transfer GlcNAc from UDP-GlcNAc to GlcNAcDOLP pathways.

ALG14 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ALG14 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 12 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, epilepsy, and progressive cerebral atrophy.

5 publications have been identified in PubMed for myopathy, epilepsy, and progressive cerebral atrophy. Research spans Case Report / Case Series (60%) and Review / Meta-Analysis (40%).

Recent Publications

Elias A (2026). [PMID: 42041587](https://pubmed.ncbi.nlm.nih.gov/42041587/). *Cells*. [Review / Meta-Analysis]
Finsterer J (2026). [PMID: 42205672](https://pubmed.ncbi.nlm.nih.gov/42205672/). *Cureus*. [Case Report / Case Series]
Sartorelli J (2025). [PMID: 40002489](https://pubmed.ncbi.nlm.nih.gov/40002489/). *Brain sciences*. [Case Report / Case Series]
Bergonzini L (2025). [PMID: 40030095](https://pubmed.ncbi.nlm.nih.gov/40030095/). *Neurology*. [Case Report / Case Series]
González Barral C (2025). [PMID: 39888848](https://pubmed.ncbi.nlm.nih.gov/39888848/). *Developmental medicine and child neurology*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619036

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?

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myopathy, epilepsy, and progressive cerebral atrophy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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