autosomal recessive limb-girdle muscular dystrophy type 2D
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2D 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 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.
Definition from the Mondo Disease Ontology (MONDO:0011968), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive
HPO, annotations 2026-09-02
Features
26 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.
- Ankle flexion contractureHPOHP:0006466
- 1 of 1 reported patient
- Calf muscle hypertrophyHPOHP:0008981
- 5 of 5 reported patients
- CardiomyopathyHPOHP:0001638
- 1 of 1 reported patient
- Congestive heart failureHPOHP:0001635
- 1 of 1 reported patient
- Dilated cardiomyopathyHPOHP:0001644
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
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.
- SGCAHGNC:10805
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2D
- Also called
- Alpha-sarcoglycanopathyautosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCADMDA2LGMD2Dlimb-girdle muscular dystrophy due to alpha-sarcoglycan deficiencylimb-girdle muscular dystrophy type 2Dmuscular dystrophy, limb-girdle, autosomal recessive 3muscular dystrophy, limb-girdle, type 2DSGCA autosomal recessive limb-girdle muscular dystrophy