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autosomal recessive limb-girdle muscular dystrophy type 2O - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Gowers sign, High myopia, and Increased endomysial connective tissue and others; and sometimes findings: Motor delay. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Difficulty climbing stairs, Progressive muscle deterioration (muscular dystrophy), Gowers sign
Bones and joints	2	Excessive inward curvature of the lower spine (hyperlordosis), Skeletal muscle hypertrophy
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)
Brain and nerves	1	Fatigue

Age of onset: adolescence.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

102 publications have been identified in PubMed for autosomal recessive limb-girdle muscular dystrophy type 2O. Kisho has analyzed 30 by research type. Research spans Review / Meta-Analysis (67%), Epidemiology / Natural History (23%), and Clinical Trial Publication (10%).

Research Type	Count	% of Total
Research summaries	20	67%
Disease patterns and progression	7	23%
Clinical study results	3	10%

Recent Publications

Li S (2026). [PMID: 41379706](https://pubmed.ncbi.nlm.nih.gov/41379706/). *J Fam Psychol*. [Review / Meta-Analysis]
Campbell JI (2025). [PMID: 39509188](https://pubmed.ncbi.nlm.nih.gov/39509188/). *Curr Opin Pediatr*. [Review / Meta-Analysis]
Silverstein M (2025). [PMID: 39780401](https://pubmed.ncbi.nlm.nih.gov/39780401/). *Gerontologist*. [Review / Meta-Analysis]
Sun Y (2025). [PMID: 40645130](https://pubmed.ncbi.nlm.nih.gov/40645130/). *Midwifery*. [Review / Meta-Analysis]
Woodward LJ (2025). [PMID: 39491338](https://pubmed.ncbi.nlm.nih.gov/39491338/). *Acta Paediatr*. [Review / Meta-Analysis]
McMahon EL (2025). [PMID: 41206319](https://pubmed.ncbi.nlm.nih.gov/41206319/). *Curr Probl Pediatr Adolesc Health Care*. [Review / Meta-Analysis]
Taki S (2025). [PMID: 40785243](https://pubmed.ncbi.nlm.nih.gov/40785243/). *Int J Nurs Pract*. [Clinical Trial Publication]
Marshall KH (2025). [PMID: 39838237](https://pubmed.ncbi.nlm.nih.gov/39838237/). *Qual Life Res*. [Epidemiology / Natural History]
Flynn P (2025). [PMID: 40578827](https://pubmed.ncbi.nlm.nih.gov/40578827/). *Sleep*. [Review / Meta-Analysis]
Antunes LAA (2025). [PMID: 40946147](https://pubmed.ncbi.nlm.nih.gov/40946147/). *Pediatr Dent*. [Review / Meta-Analysis]

Kisho

autosomal recessive limb-girdle muscular dystrophy type 2O

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

autosomal recessive limb-girdle muscular dystrophy type 2O

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team