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

Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Delayed ability to walk, Difficulty climbing stairs, and Hypoglycosylation of alpha-dystroglycan and others; and very common findings: Enlarged calf muscles (calf muscle hypertrophy). 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Flexion contracture, Difficulty climbing stairs, Progressive muscle deterioration (muscular dystrophy)
Brain and nerves	3	Difficulty walking (gait disturbance), Spinal rigidity, Intellectual disability
Bones and joints	2	Joint stiffness, Excessive inward curve of the lower back (lumbar hyperlordosis)
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)
Head and neck	1	Microcephaly
Heart and blood vessels	1	Heart muscle disease (cardiomyopathy)
Arms and legs	1	Limb-girdle muscle weakness

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.

118 publications have been identified in PubMed for autosomal recessive limb-girdle muscular dystrophy type 2K. Kisho has analyzed 44 by research type. Research spans Review / Meta-Analysis (43%), Case Report / Case Series (18%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Research summaries	19	43%
Patient case studies	8	18%
Disease patterns and progression	8	18%
Clinical study results	6	14%
Laboratory research	2	5%
Other research	1	2%

Recent Publications

Schroeder RL (2026). [PMID: 41064951](https://pubmed.ncbi.nlm.nih.gov/41064951/). *Vet Pathol*. [Basic Science / Preclinical]
Zhang J (2026). [PMID: 42158226](https://pubmed.ncbi.nlm.nih.gov/42158226/). *Clin Case Rep*. [Case Report / Case Series]
Li S (2026). [PMID: 41379706](https://pubmed.ncbi.nlm.nih.gov/41379706/). *J Fam Psychol*. [Review / Meta-Analysis]
Jayanna S (2026). [PMID: 41930014](https://pubmed.ncbi.nlm.nih.gov/41930014/). *Oman J Ophthalmol*. [Case Report / Case Series]
Woodward LJ (2025). [PMID: 39491338](https://pubmed.ncbi.nlm.nih.gov/39491338/). *Acta Paediatr*. [Review / Meta-Analysis]
Sawangkum P (2025). [PMID: 41399054](https://pubmed.ncbi.nlm.nih.gov/41399054/). *J Clin Ultrasound*. [Case Report / Case Series]
Campbell JI (2025). [PMID: 39509188](https://pubmed.ncbi.nlm.nih.gov/39509188/). *Curr Opin Pediatr*. [Review / Meta-Analysis]
Liu FQ (2025). [PMID: 40186435](https://pubmed.ncbi.nlm.nih.gov/40186435/). *J Ultrasound Med*. [Clinical Trial Publication]
Flynn P (2025). [PMID: 40578827](https://pubmed.ncbi.nlm.nih.gov/40578827/). *Sleep*. [Review / Meta-Analysis]
Ishigaki K (2025). [PMID: 40011677](https://pubmed.ncbi.nlm.nih.gov/40011677/). *Sci Rep*. [Epidemiology / Natural History]

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autosomal recessive limb-girdle muscular dystrophy type 2K

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 2K

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