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

autosomal recessive limb-girdle muscular dystrophy type 2R1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive limb-girdle muscular dystrophy type 2R1

MONDO:0014977

Also known as:LGMD2ZPOGLUT1 autosomal recessive limb-girdle muscular dystrophyautosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1

Overview

An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients.

GeneticsAutosomal recessive · POGLUT1 (chr 3)

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: Skeletal muscle atrophy, Scapular winging, Fatty replacement of skeletal muscle, and Proximal lower limb muscle weakness and others; and common findings: Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Reduced forced vital capacity, and Loss of ambulation. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Proximal lower limb muscle weakness

Genetic Landscape

POGLUT1 function has not been fully characterized.

Autosomal recessive limb-girdle muscular dystrophy type 2R1 is associated with mutations in the POGLUT1 gene on chromosome 3.

Diagnosis

Genetic testing for POGLUT1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 4 common features.

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

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617232

Orphanet

European rare disease database

Orphanet:480682

GARD

Genetic and Rare Diseases Info Center

GARD:17869

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

autosomal recessive limb-girdle muscular dystrophy type 2R1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features