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limb-girdle muscular dystrophy due to POMK deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

limb-girdle muscular dystrophy due to POMK deficiency

MONDO:0014489

Also known as:LGMD due to POMK deficiencyMDDGC12muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12

Overview

Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.

GeneticsAutosomal recessive · POMK (chr 8)

ResearchLimited published research (2 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: Hyporeflexia, Borderline intellectual disability, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), and Delayed ability to walk and others; and common findings: Gowers sign and Enlarged cisterna magna. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Difficulty climbing stairs, Progressive muscle deterioration (muscular dystrophy), Gowers sign

Genetic Landscape

POMK function has not been fully characterized.

Limb-girdle muscular dystrophy due to POMK deficiency is associated with mutations in the POMK gene on chromosome 8.

Diagnosis

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

Prognosis

Phenotype severity distribution: 8 always present features, 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.

No clinical trials have been registered for limb-girdle muscular dystrophy due to POMK deficiency.

2 publications have been identified in PubMed for limb-girdle muscular dystrophy due to POMK deficiency. Research spans Other (50%) and Review / Meta-Analysis (50%).

Recent Publications

Sharaf-Eldin W (2025). [PMID: 39998573](https://pubmed.ncbi.nlm.nih.gov/39998573/). *Journal of molecular neuroscience : MN*. [Review / Meta-Analysis]
Bekele BM (2024). [PMID: 39063061](https://pubmed.ncbi.nlm.nih.gov/39063061/). *International journal of molecular sciences*. [Other]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616094

Orphanet

European rare disease database

Orphanet:445110

GARD

Genetic and Rare Diseases Info Center

GARD:17769

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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limb-girdle muscular dystrophy due to POMK deficiency

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

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