autosomal recessive limb-girdle muscular dystrophy type 2B
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2B 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 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.
Definition from the Mondo Disease Ontology (MONDO:0009676), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
35 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
- 25 of 25 reported patients
- Very frequent (80% to 99% of cases)
- Proximal muscle weaknessHPOHP:0003701
- 32 of 32 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 7 of 7 reported patients
- Loss of ambulationHPOHP:0002505
- 6 of 25 reported patients
- 6 of 7 reported patients · Middle age onset
- Lower limb muscle weaknessHPOHP:0007340
- 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.
- DYSFHGNC:3097
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2B
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSFDYSF autosomal recessive limb-girdle muscular dystrophyLGMD2BLGMD3limb-girdle muscular dystrophy due to dysferlin deficiencylimb-girdle muscular dystrophy type 2Bmuscular dystrophy, limb-girdle, autosomal recessive 2