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autosomal dominant limb-girdle muscular dystrophy type 1E (DES) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant limb-girdle muscular dystrophy type 1E (DES)

MONDO:0018098

Also known as:LGMD1Elimb-girdle muscular dystrophy type 1E

Find Clinical TrialsTrials

Overview

Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions.

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (2 articles)

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

2 publications have been identified in PubMed for autosomal dominant limb-girdle muscular dystrophy type 1E (DES). Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Mohar NP (2025). [PMID: 40249815](https://pubmed.ncbi.nlm.nih.gov/40249815/). *Sci Adv*. [Basic Science / Preclinical]
Politano L (2024). [PMID: 38791328](https://pubmed.ncbi.nlm.nih.gov/38791328/). *Int J Mol Sci*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:34517

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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autosomal dominant limb-girdle muscular dystrophy type 1E (DES)

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team