autosomal recessive limb-girdle muscular dystrophy type 2I
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0011787), read 2026-09-29. CC BY 4.0.
Features
17 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
- Very frequent (80% to 99% of cases)
- Muscular dystrophyHPOHP:0003560
- Very frequent (80% to 99% of cases)
- Proximal muscle weaknessHPOHP:0003701
- Very frequent (80% to 99% of cases)
- Reduced muscle fiber alpha dystroglycanHPOHP:0030099
- Very frequent (80% to 99% of cases)
- Abnormal Achilles tendon morphologyHPOHP:0005109
- Frequent (30% to 79% of cases)
- Calf muscle hypertrophyHPOHP:0008981
- Frequent (30% to 79% of cases)
Show the remaining 5
- Dilated cardiomyopathyHPOHP:0001644
- Occasional (5% to 29% of cases)
- Frequent fallsHPOHP:0002359
- Occasional (5% to 29% of cases)
- Motor delayHPOHP:0001270
- Occasional (5% to 29% of cases)
- Reduced muscle fiber merosinHPOHP:0030092
- Occasional (5% to 29% of cases)
- ScoliosisHPOHP:0002650
- Occasional (5% to 29% 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.
- FKRPHGNC:17997
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2I
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRPFKRP autosomal recessive limb-girdle muscular dystrophyLGMD-FKRP relatedLGMD2Ilimb-girdle muscular dystrophy due to FKRP deficiencyMDDGC5muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5muscular dystrophy-dystroglycanopathy (limb-girdle), type C5