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Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.
Features include: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Proximal upper limb amyotrophy, Difficulty walking (gait disturbance), and Difficulty climbing stairs and 12 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 8 | Difficulty climbing stairs, Progressive muscle deterioration (muscular dystrophy), Distal lower limb muscle weakness |
Arms and legs | 7 | Proximal upper limb amyotrophy, Distal lower limb muscle weakness, Foot dorsiflexor weakness |
Lab test results | 1 | Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) |
Brain and nerves | 1 | Difficulty walking (gait disturbance) |
TCAP function has not been fully characterized.
Autosomal recessive limb-girdle muscular dystrophy type 2G is associated with mutations in the TCAP gene on chromosome 17.
Genetic testing for TCAP is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for autosomal recessive limb-girdle muscular dystrophy type 2G has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for autosomal recessive limb-girdle muscular dystrophy type 2G.
2 publications have been identified in PubMed for autosomal recessive limb-girdle muscular dystrophy type 2G. Research spans Diagnostic / Biomarker (50%) and Review / Meta-Analysis (50%).
Paprad T (2025). [PMID: 40195250](https://pubmed.ncbi.nlm.nih.gov/40195250/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Diagnostic / Biomarker]
Politano L (2024). [PMID: 38791328](https://pubmed.ncbi.nlm.nih.gov/38791328/). *International journal of molecular sciences*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center