autosomal recessive limb-girdle muscular dystrophy type 2Y
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2Y 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 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.
Definition from the Mondo Disease Ontology (MONDO:0014900), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Slowly progressive · Early young adult onset
HPO, annotations 2026-09-02
Features
16 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.
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 1 reported patient
- Decreased forced expiratory flow 25-75%HPOHP:0032359
- 2 of 2 reported patients
- Increased endomysial connective tissueHPOHP:0100297
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 2 of 2 reported patients
- Ankle flexion contracture
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.
- TOR1AIP1HGNC:29456
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2Y
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1autosomal recessive muscular dystrophy due to LAP1B deficiencyautosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiencyLGMD2Ymuscular dystrophy with progressive weakness, distal contractures and rigid spinemuscular dystrophy, autosomal recessive, with rigid spine and distal joint contracturesTOR1AIP1 autosomal recessive limb-girdle muscular dystrophy