autosomal recessive limb-girdle muscular dystrophy type 2Q
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2Q 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 characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.
Definition from the Mondo Disease Ontology (MONDO:0013390), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Rapidly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
37 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.
- Progressive proximal muscle weaknessHPOHP:0009073
- Very frequent (80% to 99% of cases)
- Axial muscle atrophyHPOHP:0040287
- Frequent (30% to 79% of cases)
- Difficulty climbing stairsHPOHP:0003551
- Frequent (30% to 79% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
- Frequent falls
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.
- PLECHGNC:9069
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2Q
- Also called
- LGMD2Qmuscular dystrophy, limb-girdle, autosomal recessive 17muscular dystrophy, limb-girdle, type 2Q