autosomal recessive limb-girdle muscular dystrophy type 2H
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2H 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 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.
Definition from the Mondo Disease Ontology (MONDO:0009683), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Slowly progressive · Young adult onset
HPO, annotations 2026-09-02
Features
14 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.
- EMG: myopathic abnormalitiesHPOHP:0003458
- 1 of 1 reported patient
- Proximal amyotrophyHPOHP:0007126
- 2 of 2 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- EMG abnormalityHPOHP:0003457
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPO
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.
- TRIM32HGNC:16380
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2H
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32LGMD2Hlimb-girdle muscular dystrophy due to TRIM32 deficiencymuscular dystrophy, limb-girdle, autosomal recessive 8Sarcotubular myopathyTRIM32 autosomal recessive limb-girdle muscular dystrophy