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

Rare Disease

autosomal recessive limb-girdle muscular dystrophy type 2W

MONDO:0014788

Also known as:LGMD2WLIMS2 autosomal recessive limb-girdle muscular dystrophyautosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2

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Overview

Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.

GeneticsAutosomal recessive · LIMS2 (chr 2)

Clinical Trials1 registered · 1 recruiting

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: Skeletal muscle atrophy, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Talipes equinovarus, and Tetraparesis and 8 more.

Organ System	Phenotype Count	Example Features
Muscles	4	Skeletal muscle atrophy, Progressive muscle deterioration (muscular dystrophy), Enlarged calf muscles (calf muscle hypertrophy)

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.

LIMS2 encodes LIM zinc finger domain containing 2 (341 aa). Adapter protein in a cytoplasmic complex linking beta-integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Highest expression in Colon Sigmoid (448.3 TPM) and Uterus (277.7 TPM).

Autosomal recessive limb-girdle muscular dystrophy type 2W is associated with mutations in the LIMS2 gene on chromosome 2.

LIMS2 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for LIMS2 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616827

Orphanet

European rare disease database

Orphanet:466801

GARD

Genetic and Rare Diseases Info Center

GARD:17834

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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autosomal recessive limb-girdle muscular dystrophy type 2W

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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