autosomal recessive limb-girdle muscular dystrophy type 2L
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2L yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.
Definition from the Mondo Disease Ontology (MONDO:0012652), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
38 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
- 12 of 12 reported patients
- Frequent (30% to 79% of cases)
- Pelvic girdle muscle weaknessHPOHP:0003749
- 12 of 12 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 11 of 12 reported patients
- Quadriceps muscle atrophyHPOHP:0009050
- 6 of 7 reported patients
- Frequent (30% to 79% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Very frequent (80% to 99% 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.
- ANO5HGNC:27337
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2L
- Also called
- ANO5 autosomal recessive limb-girdle muscular dystrophyautosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5LGMD2Lmuscular dystrophy, limb-girdle, autosomal recessive 12muscular dystrophy, limb-girdle, type 2L