How rare is Emery-Dreifuss muscular dystrophy?

Emery-Dreifuss muscular dystrophy is classified as rare. The estimated prevalence is approximately 1-9 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Emery-Dreifuss muscular dystrophy diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Emery-Dreifuss muscular dystrophy?

Information about treatment is currently limited for this condition.

What complications can arise from Emery-Dreifuss muscular dystrophy?

Emery-Dreifuss muscular dystrophy can lead to serious complications, especially related to the heart. Many people with this condition may develop cardiomyopathy, which is a disease of the heart muscle. This can affect how well the heart pumps blood and may require careful monitoring and management.

How does Emery-Dreifuss muscular dystrophy affect daily life?

Living with Emery-Dreifuss muscular dystrophy can be challenging due to muscle weakness and joint stiffness. These symptoms can make everyday activities, like walking or climbing stairs, more difficult. It's important for families to find ways to support mobility and independence.

What is the prognosis for someone with Emery-Dreifuss muscular dystrophy?

The prognosis for Emery-Dreifuss muscular dystrophy is not well-defined, as specific information about life expectancy is limited. However, the condition can lead to heart issues, which may impact overall health. Regular check-ups with healthcare providers are important for managing symptoms and complications.

Should families consider genetic counseling for Emery-Dreifuss muscular dystrophy?

Yes, families may want to consider genetic counseling when dealing with Emery-Dreifuss muscular dystrophy. This condition can be inherited, and a genetic counselor can provide information about risks for future children and help families understand the genetic aspects of the disease.

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Emery-Dreifuss muscular dystrophy (EDMD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Emery-Dreifuss muscular dystrophy

MONDO:0016830

Also known as:EDMDHumeroperoneal neuromuscular disease, (formerly)scapuloperoneal syndrome, X-linked (formerly)

Find Clinical TrialsTrials

Overview

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.

OnsetADULT

Clinical Trials2 registered · 2 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Pectus excavatum, Reduced tendon reflexes, Joint stiffness, and Myotonia and others; and common findings: Sprengel anomaly, Difficulty walking (gait disturbance), Achilles tendon contracture, and Hypertriglyceridemia and others. 43 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	14	Reduced tendon reflexes, Myotonia, Myopathy

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

LMNA-related dilated cardiomyopathy (DCM) should be considered in individuals with the following clinical findings and family history.

Clinical findings

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 Emery-Dreifuss muscular dystrophy. 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

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5.

Recommended Surveillance for Individuals with LMNA-related DCM

System/Concern | Evaluation | Frequency

LMNA variant w/any EKG abnormality

| Cardiovascular eval for disease progression w/EKG, 24-48 hr rhythm monitoring, LV function measurement | Annually (at a minimum)

LMNA variant in an asymptomatic person

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

54 publications have been identified in PubMed for Emery-Dreifuss muscular dystrophy. Research spans Basic Science / Preclinical (44%), Case Report / Case Series (22%), and Review / Meta-Analysis (11%).

Research Type	Count	% of Total
Laboratory research	24

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:261

GARD

Genetic and Rare Diseases Info Center

GARD:6329

Questions for Your Care Team

→Are any of the 2 active clinical trials 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?

FAQ

Frequently Asked Questions

Common questions about Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) is a condition that mainly affects the muscles and heart. It is characterized by gradual muscle weakening and atrophy, along with early joint contractures, which means that some joints may become stiff at a young age. In addition to the muscle issues, people with this condition can develop cardiomyopathy, a disease of the heart muscle. This summary is based on trusted information and helps to understand the key features of this rare disorder.

Common signs of Emery-Dreifuss muscular dystrophy include muscle weakness and muscle wasting (atrophy). Early joint contractures, or stiffness in the joints, are also noted. Many people with this condition may experience heart problems due to cardiomyopathy.

Information about causes is currently limited for this condition. Associated genes include LMNA.

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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.

Kisho

Emery-Dreifuss muscular dystrophy

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

LMNA variant w/any EKG abnormality

LMNA variant in an asymptomatic person

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Accelerating discovery of novel treatments for rare diseases | News | CORDIS | European Commission

Emery-Dreifuss muscular dystrophy

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

LMNA variant w/any EKG abnormality

LMNA variant in an asymptomatic person

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Emery-Dreifuss muscular dystrophy?

What are the symptoms of Emery-Dreifuss muscular dystrophy?

What causes Emery-Dreifuss muscular dystrophy?

How rare is Emery-Dreifuss muscular dystrophy?

How is Emery-Dreifuss muscular dystrophy diagnosed?

Are there treatments for Emery-Dreifuss muscular dystrophy?

What complications can arise from Emery-Dreifuss muscular dystrophy?

How does Emery-Dreifuss muscular dystrophy affect daily life?

What is the prognosis for someone with Emery-Dreifuss muscular dystrophy?

Should families consider genetic counseling for Emery-Dreifuss muscular dystrophy?

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Accelerating discovery of novel treatments for rare diseases | News | CORDIS | European Commission