autosomal recessive limb-girdle muscular dystrophy type 2A
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2A 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 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.
Definition from the Mondo Disease Ontology (MONDO:0009675), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
25 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Muscle eosinophiliaHPOHP:0032019
- 6 of 6 reported patients
- Generalized muscle weaknessHPOHP:0003324
- Very frequent (80% to 99% of cases)
- Ankle flexion contractureHPOHP:0006466
- Frequent (30% to 79% of cases)
- Calf muscle hypertrophyHPOHP:0008981
- Frequent (30% to 79% of cases)
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.
- CAPN3HGNC:1480
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
10 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2A
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3calpainopathyCAPN3 autosomal recessive limb-girdle muscular dystrophyLeyden-Moebius muscular dystrophyLGMD2Alimb-girdle muscular dystrophy due to calpain deficiencylimb-girdle muscular dystrophy type 2Amuscular dystrophy, limb-girdle, autosomal recessive 1muscular dystrophy, limb-girdle, type 2Aprimary calpainopathy