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

Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Hypoglycosylation of alpha-dystroglycan, and Limb-girdle muscle weakness; and common findings: Microcephaly, Mild intellectual disability, Seizure, and Low muscle tone (hypotonia) and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	4	Low muscle tone (hypotonia), Progressive muscle deterioration (muscular dystrophy), Proximal muscle weakness
Brain and nerves	3	Mild intellectual disability, Seizure, Exercise intolerance
Eyes	2	Cataract, Nystagmus
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)
Head and neck	1	Microcephaly
Lungs and breathing	1	Difficulty breathing (respiratory insufficiency)
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.

100 publications have been identified in PubMed for autosomal recessive limb-girdle muscular dystrophy type 2T. Kisho has analyzed 52 by research type. Research spans Other (46%), Review / Meta-Analysis (37%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Other research	24	46%
Research summaries	19	37%
Disease patterns and progression	5	10%
Clinical study results	4	8%

Recent Publications

Smith M (2026). [PMID: 41421115](https://pubmed.ncbi.nlm.nih.gov/41421115/). *Acta Psychol (Amst)*. [Other]
Li S (2026). [PMID: 41379706](https://pubmed.ncbi.nlm.nih.gov/41379706/). *J Fam Psychol*. [Review / Meta-Analysis]
Donohue GF (2026). [PMID: 41793381](https://pubmed.ncbi.nlm.nih.gov/41793381/). *Eur J Pain*. [Review / Meta-Analysis]
Marshall KH (2025). [PMID: 39838237](https://pubmed.ncbi.nlm.nih.gov/39838237/). *Qual Life Res*. [Epidemiology / Natural History]
Lawson M (2025). [PMID: 39977677](https://pubmed.ncbi.nlm.nih.gov/39977677/). *Dev Psychol*. [Other]
Antunes LAA (2025). [PMID: 40946147](https://pubmed.ncbi.nlm.nih.gov/40946147/). *Pediatr Dent*. [Review / Meta-Analysis]
Campbell JI (2025). [PMID: 39509188](https://pubmed.ncbi.nlm.nih.gov/39509188/). *Curr Opin Pediatr*. [Review / Meta-Analysis]
Goodrich J (2025). [PMID: 40925213](https://pubmed.ncbi.nlm.nih.gov/40925213/). *Int J Nurs Stud*. [Other]
Taki S (2025). [PMID: 40785243](https://pubmed.ncbi.nlm.nih.gov/40785243/). *Int J Nurs Pract*. [Clinical Trial Publication]
Flynn P (2025). [PMID: 40578827](https://pubmed.ncbi.nlm.nih.gov/40578827/). *Sleep*. [Review / Meta-Analysis]

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autosomal recessive limb-girdle muscular dystrophy type 2T

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 2T

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