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Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.
Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Difficulty walking (gait disturbance), Difficulty climbing stairs, and Proximal amyotrophy and others; and common findings: Scapular winging, Shuffling gait, Proximal upper limb amyotrophy, and Proximal lower limb amyotrophy and others. 15 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 6 | Difficulty climbing stairs, Enlarged calf muscles (calf muscle hypertrophy), Progressive muscle deterioration (muscular dystrophy) |
Arms and legs | 3 | Proximal upper limb amyotrophy, Proximal lower limb amyotrophy, Generalized limb muscle atrophy |
Brain and nerves | 2 | Difficulty walking (gait disturbance), Shuffling gait |
Lab test results | 1 | Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) |
Heart and blood vessels | 1 | Ventricular hypertrophy |
Head and neck | 1 | Facial palsy |
SGCD function has not been fully characterized.
Autosomal recessive limb-girdle muscular dystrophy type 2F is associated with mutations in the SGCD gene on chromosome 5.
Genetic testing for SGCD is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 5 always present features, 6 common features.
Estimated prevalence: 1-9 in 1,000,000 (Rare).
No clinical trials have been registered for autosomal recessive limb-girdle muscular dystrophy type 2F.
8 publications have been identified in PubMed for autosomal recessive limb-girdle muscular dystrophy type 2F. Research spans Basic Science / Preclinical (38%), Epidemiology / Natural History (25%), and Review / Meta-Analysis (13%).
Sezer A (2026). [PMID: 40785021](https://pubmed.ncbi.nlm.nih.gov/40785021/). *Clinical genetics*. [Gene Therapy / Novel Therapeutics]
Sakhaei A (2026). [PMID: 41721539](https://pubmed.ncbi.nlm.nih.gov/41721539/). *Cell journal*. [Case Report / Case Series]
Gutiérrez-Rojas C (2025). [PMID: 40050938](https://pubmed.ncbi.nlm.nih.gov/40050938/). *Skeletal muscle*. [Basic Science / Preclinical]
Iammarino MA (2025). [PMID: 40997622](https://pubmed.ncbi.nlm.nih.gov/40997622/). *Neuromuscular disorders : NMD*. [Epidemiology / Natural History]
Zarén P (2024). [PMID: 38926599](https://pubmed.ncbi.nlm.nih.gov/38926599/). *Scientific reports*. [Basic Science / Preclinical]
Politano L (2024). [PMID: 38791328](https://pubmed.ncbi.nlm.nih.gov/38791328/). *International journal of molecular sciences*. [Review / Meta-Analysis]
Karthikeyan P (2024). [PMID: 39548682](https://pubmed.ncbi.nlm.nih.gov/39548682/). *Molecular genetics & genomic medicine*. [Epidemiology / Natural History]
Taneva A (2024). [PMID: 39336735](https://pubmed.ncbi.nlm.nih.gov/39336735/). *Genes*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:33 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center