Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

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

Features include always present findings: Increased endomysial connective tissue, Enlarged calf muscles (calf muscle hypertrophy), Congestive heart failure, and Heart muscle disease (cardiomyopathy) and others; and common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Scapular winging, Gowers sign, and Proximal muscle weakness and others. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	16	Limb-girdle muscle atrophy, Flexion contracture, Gowers sign
Arms and legs	4	Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Limb-girdle muscle weakness
Bones and joints	3	Sideways curvature of the spine (scoliosis), Excessive inward curvature of the lower spine (hyperlordosis), Thoracic scoliosis
Heart and blood vessels	3	Congestive heart failure, Heart muscle disease (cardiomyopathy), Enlarged and weakened heart (dilated cardiomyopathy)
Brain and nerves	3	Unsteady gait, Waddling gait, Tip-toe gait
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)

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, 1 recruiting. Interventions under study include other interventions. Research is sponsored by a mix of industry and academic institutions.

26 publications have been identified in PubMed for autosomal recessive limb-girdle muscular dystrophy type 2D. Research spans Epidemiology / Natural History (27%), Basic Science / Preclinical (23%), and Review / Meta-Analysis (12%).

Research Type	Count	% of Total
Disease patterns and progression	7	27%
Laboratory research	6	23%
Research summaries	3	12%
Patient case studies	3	12%
Testing and diagnosis research	2	8%
Clinical study results	2	8%
New treatment approaches	2	8%
Other research	1	4%

Recent Publications

Luce L (2026). [PMID: 41853897](https://pubmed.ncbi.nlm.nih.gov/41853897/). *Ann Clin Transl Neurol*. [Review / Meta-Analysis]
Fayssoil A (2026). [PMID: 41680282](https://pubmed.ncbi.nlm.nih.gov/41680282/). *Scientific reports*. [Epidemiology / Natural History]
Sezer A (2026). [PMID: 40785021](https://pubmed.ncbi.nlm.nih.gov/40785021/). *Clinical genetics*. [Basic Science / Preclinical]
Carrell EM (2026). [PMID: 41746209](https://pubmed.ncbi.nlm.nih.gov/41746209/). *Brain*. [Other]
Mouloudi N (2026). [PMID: 41954144](https://pubmed.ncbi.nlm.nih.gov/41954144/). *Acta Myol*. [Case Report / Case Series]
Benetollo A (2025). [PMID: 39864467](https://pubmed.ncbi.nlm.nih.gov/39864467/). *Biochemical pharmacology*. [Gene Therapy / Novel Therapeutics]
Ouazzani HEL (2025). [PMID: 39709673](https://pubmed.ncbi.nlm.nih.gov/39709673/). *International journal of surgery case reports*. [Clinical Trial Publication]
Costa-Comellas L (2025). [PMID: 41475892](https://pubmed.ncbi.nlm.nih.gov/41475892/). *Annals of clinical and translational neurology*. [Epidemiology / Natural History]
Shimazaki R (2025). [PMID: 39755676](https://pubmed.ncbi.nlm.nih.gov/39755676/). *Orphanet journal of rare diseases*. [Basic Science / Preclinical]
Gutiérrez-Rojas C (2025). [PMID: 40050938](https://pubmed.ncbi.nlm.nih.gov/40050938/). *Skeletal muscle*. [Epidemiology / Natural History]

Kisho

autosomal recessive limb-girdle muscular dystrophy type 2D

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 2D

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