autosomal recessive limb-girdle muscular dystrophy type 2J
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2J 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 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.
Definition from the Mondo Disease Ontology (MONDO:0012127), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Early young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- Difficulty climbing stairsHPOHP:0003551
- 1 of 1 reported patient
- Fatty replacement of skeletal muscleHPOHP:0012548
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
- CardiomyopathyHPOHP:0001638
- 0 of 1 reported patient
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.
- TTNHGNC:12403
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2015
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2J
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTNLGMD2Jmuscular dystrophy, limb-girdle, autosomal recessive 10muscular dystrophy, limb-girdle, type 2JTTN autosomal recessive limb-girdle muscular dystrophy