autosomal recessive limb-girdle muscular dystrophy type 2E
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2E 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 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.
Definition from the Mondo Disease Ontology (MONDO:0011423), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
15 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)
- Loss of ambulationHPOHP:0002505
- 7 of 7 reported patients · Juvenile onset
- Broad-based gaitHPOHP:0002136
- Frequent (30% to 79% of cases)
- Calf muscle hypertrophyHPOHP:0008981
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 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.
- SGCBHGNC:10806
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
12 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2E
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCBbeta-sarcoglycan-related LGMD R4beta-sarcoglycan-related limb-girdle muscular dystrophy R4LGMD due to beta-sarcoglycan deficiencyLGMD type 2ELGMD2ELGMDR4limb-girdle muscular dystrophy due to beta-sarcoglycan deficiencylimb-girdle muscular dystrophy type 2Emuscular dystrophy, limb-girdle, autosomal recessive 4muscular dystrophy, limb-girdle, type 2ESGCB autosomal recessive limb-girdle muscular dystrophy