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autosomal recessive limb-girdle muscular dystrophy type 2X - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive limb-girdle muscular dystrophy type 2X

MONDO:0014782

Also known as:BVES autosomal recessive limb-girdle muscular dystrophyLGMD2Xautosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES

Overview

Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.

GeneticsAutosomal recessive · POPDC1 (chr 6)

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, Second degree atrioventricular block, and Syncope; and common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Limb muscle weakness, Muscle fiber necrosis, and Limb-girdle muscle weakness and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	10

Genetic Landscape

POPDC1 function has not been fully characterized.

Autosomal recessive limb-girdle muscular dystrophy type 2X is associated with mutations in the POPDC1 gene on chromosome 6.

Diagnosis

Genetic testing for POPDC1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616812

Orphanet

European rare disease database

Orphanet:476084

GARD

Genetic and Rare Diseases Info Center

GARD:17847

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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autosomal recessive limb-girdle muscular dystrophy type 2X

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

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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