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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.
Features include always present findings: Proximal amyotrophy, Proximal muscle weakness, and EMG: myopathic abnormalities; and common findings: Paresthesia and Loss of ambulation. 22 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 15 | Quadriceps muscle weakness, Gowers sign, Falsely enlarged calf muscles (calf muscle pseudohypertrophy) |
Brain and nerves | 3 | Waddling gait, Hyporeflexia, Paresthesia |
Lab test results | 1 | Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) |
Head and neck | 1 | Facial palsy |
Bones and joints | 1 | Centrally nucleated skeletal muscle fibers |
Age of onset: later in life.
TRIM32 function has not been fully characterized.
Autosomal recessive limb-girdle muscular dystrophy type 2H is associated with mutations in the TRIM32 gene on chromosome 9.
Genetic testing for TRIM32 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 2 common features.
Estimated prevalence: Unknown (Unknown prevalence).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
6 publications have been identified in PubMed for autosomal recessive limb-girdle muscular dystrophy type 2H. Research spans Basic Science / Preclinical (33%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).
Guérémy A (2026). [PMID: 41943552](https://pubmed.ncbi.nlm.nih.gov/41943552/). *Muscle Nerve*. [Epidemiology / Natural History]
Llansó L (2025). [PMID: 39817497](https://pubmed.ncbi.nlm.nih.gov/39817497/). *Neuropathology and applied neurobiology*. [Basic Science / Preclinical]
Tlili A (2025). [PMID: 40804694](https://pubmed.ncbi.nlm.nih.gov/40804694/). *Human genomics*. [Gene Therapy / Novel Therapeutics]
Xie Y (2024). [PMID: 39527628](https://pubmed.ncbi.nlm.nih.gov/39527628/). *PLoS pathogens*. [Basic Science / Preclinical]
Politano L (2024). [PMID: 38791328](https://pubmed.ncbi.nlm.nih.gov/38791328/). *International journal of molecular sciences*. [Review / Meta-Analysis]
Caputo M (2024). [PMID: 40017290](https://pubmed.ncbi.nlm.nih.gov/40017290/). *Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology*. [Case Report / Case Series]
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 9:43 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center