autosomal recessive limb-girdle muscular dystrophy type 2W
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2W yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014788), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Calf muscle hypertrophyHPOHP:0008981
- Dilated cardiomyopathyHPOHP:0001644
- Elevated circulating creatine kinase activityHPOHP:0003236
- MacroglossiaHPOHP:0000158
- Reduced systolic functionHPOHP:0006673
- Skeletal muscle atrophyHPOHP:0003202
- Talipes equinovarusHPOHP:0001762
- Tetraparesis
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LIMS2HGNC:16084
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2W
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2LGMD2WLIMS2 autosomal recessive limb-girdle muscular dystrophymuscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tonguemuscular dystrophy, limb-girdle, type 2W