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congenital muscular dystrophy due to LMNA mutation (L-CMD) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Poor head control, Low muscle tone (hypotonia), Distal muscle weakness, and Muscle fiber atrophy and others; and very common findings: Achilles tendon contracture, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Elbow contracture, and Neck muscle weakness. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	14	Achilles tendon contracture, Hip contracture, Low muscle tone (hypotonia)
Heart and blood vessels	3	Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Ventricular tachycardia
Arms and legs	2	Proximal upper limb amyotrophy, Upper limb muscle weakness
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)
Growth and development	1	Failure to thrive
Brain and nerves	1	Spinal rigidity
Digestive system	1	Feeding difficulties
Pregnancy and birth	1	Decreased fetal movement
Lungs and breathing	1	Difficulty breathing due to muscle weakness (respiratory insufficiency due to muscle weakness)

GeneReviews

Clinical Guidance

LMNA-related dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and/or reduced systolic function frequently preceded or accompanied by significant conduction system disease. Age of onset. While LMNA-related DCM usually presents in adulthood either with conduction system disease commonly accompanied by arrhythmias or with symptomatic DCM (including heart failure or embolus from a left ventricular mural thrombus), it may also be present in asymptomatic individuals: conduction system disease, arrhythmia, or DCM may be discovered during a medical evaluation conducted for another reason (e.g., a routine preoperative EKG) or clinical screening of at-risk relatives . Presenting signs, timing, and progression.

Source: GeneReviews — "LMNA-Related Dilated Cardiomyopathy"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for congenital muscular dystrophy due to LMNA mutation. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Guidelines for the clinical evaluation and surveillance of individuals with LMNA-related DCM and other genetic cardiomyopathies have been published . Additional guidance regarding the management of arrhythmic disease in LMNA-related DCM is also available . Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with LMNA-related DCM, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with LMNA-Related DCM

System/Concern	Evaluation	Comment
arrhythmia	Comprehensive cardiovascular eval incl clinical cardiovascular history physical exam. Review history of presyncope, syncope, resuscitated sudden cardiac death, palpitations, other symptoms of conduction system disease arrhythmia	EKG
DCM	Review history of shortness of breath, dyspnea on exertion, paroxysmal nocturnal dyspnea, chest pain.	Assessment of left ventricular enlargement function by 2-dimensional echocardiography or cardiac MRI
counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of LMNA-related DCM in order to facilitate medical personal decision making CK = creatine kinase; MOI = mode of inheritance 1.

Source: GeneReviews — "LMNA-Related Dilated Cardiomyopathy"

GeneReviews

Clinical Guidance

Drugs (beta blockers, calcium channel blockers, others) that exacerbate heart block, if present, should be avoided in LMNA-related DCM unless an electronic pacemaker or implantable cardioverter defibrillator is in place.

Source: GeneReviews — "LMNA-Related Dilated Cardiomyopathy"

GeneReviews

Therapies Under Investigation

Drugs aimed at reducing mitogen-activated protein (MAP) kinase signaling, a mechanism which has been shown to be increased in LMNA-associated DCM, are actively under investigation (ClinicalTrials.gov identifier NCT02351856) . Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "LMNA-Related Dilated Cardiomyopathy"

Clinical Trials

1 trial found

Explore Trials

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 procedural interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

11 publications have been identified in PubMed for congenital muscular dystrophy due to LMNA mutation. Research spans Epidemiology / Natural History (36%), Basic Science / Preclinical (27%), and Diagnostic / Biomarker (9%).

Research Type	Count	% of Total
Disease patterns and progression	4	36%
Laboratory research	3	27%
Testing and diagnosis research	1	9%
Research summaries	1	9%
Patient case studies	1	9%
New treatment approaches	1	9%

Recent Publications

Cicala G (2026). [PMID: 41836883](https://pubmed.ncbi.nlm.nih.gov/41836883/). *Neurology. Genetics*. [Diagnostic / Biomarker]
Saito A (2025). [PMID: 40208950](https://pubmed.ncbi.nlm.nih.gov/40208950/). *Proceedings of the National Academy of Sciences of the United States of America*. [Basic Science / Preclinical]
Mao B (2025). [PMID: 39815277](https://pubmed.ncbi.nlm.nih.gov/39815277/). *BMC musculoskeletal disorders*. [Epidemiology / Natural History]
Schena E (2025). [PMID: 40626682](https://pubmed.ncbi.nlm.nih.gov/40626682/). *Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology*. [Epidemiology / Natural History]
Caravia XM (2025). [PMID: 41082656](https://pubmed.ncbi.nlm.nih.gov/41082656/). *Proceedings of the National Academy of Sciences of the United States of America*. [Gene Therapy / Novel Therapeutics]
Douarre C (2025). [PMID: 41004038](https://pubmed.ncbi.nlm.nih.gov/41004038/). *Sub-cellular biochemistry*. [Review / Meta-Analysis]
Basu A (2025). [PMID: 40982308](https://pubmed.ncbi.nlm.nih.gov/40982308/). *Journal of child neurology*. [Basic Science / Preclinical]
Chawla T (2024). [PMID: 39103709](https://pubmed.ncbi.nlm.nih.gov/39103709/). *Neurogenetics*. [Epidemiology / Natural History]
Storey EC (2024). [PMID: 38554696](https://pubmed.ncbi.nlm.nih.gov/38554696/). *Neuromuscular disorders : NMD*. [Basic Science / Preclinical]
Martínez Olorón P (2024). [PMID: 38892025](https://pubmed.ncbi.nlm.nih.gov/38892025/). *International journal of molecular sciences*. [Case Report / Case Series]

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congenital muscular dystrophy due to LMNA mutation

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

LMNA variant w/any EKG abnormality

LMNA variant in an asymptomatic person

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

congenital muscular dystrophy due to LMNA mutation

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

LMNA variant w/any EKG abnormality

LMNA variant in an asymptomatic person

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team