National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Emery-Dreifuss muscular dystrophy


Other Names:
EDMD; Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; Scapuloperoneal syndrome, X-linked (formerly); EDMD; Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; Scapuloperoneal syndrome, X-linked (formerly); Humeroperoneal neuromuscular disease, (formerly) See More
This disease is grouped under:

Emery-Dreifuss muscular dystrophy is a condition that affects the joints, muscles, and heart. Joint symptoms tend to present in childhood and involve contractures of the elbows, ankles, and neck. Children and adults with this dystrophy usually experience slowly worsening muscle weakness and wasting. By adulthood, most people with  Emery-Dreifuss muscular dystrophy develop heart problems, such as conduction defects and arrhythmias. Emery-Dreifuss muscular dystrophy is caused by mutations in the EMD and LMNA genes. It can be inherited in an X-linked, autosomal dominant, or autosomal recessive fashion.[1]

Last updated: 8/16/2013

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] 		0003236
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Limb-girdle muscular dystrophy 0006785
Myotonia 0002486
Pectus excavatum
Funnel chest
0000767
Reduced tendon reflexes 0001315
30%-79% of people have these symptoms
Absent muscle fiber emerin 0030117
Achilles tendon contracture
Shortening of the achilles tendon
Tight achilles tendon
[ more ] 		0001771
Back pain 0003418
Decreased cervical spine flexion due to contractures of posterior cervical muscles 0004631
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] 		0002987
EMG: myopathic abnormalities 0003458
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] 		0002155
Increased LDL cholesterol concentration
Increased circulating LDL level
Increased LDL cholesterol
[ more ] 		0003141
Proximal lower limb amyotrophy
Wasting of thigh muscle
0008956
Proximal muscle weakness in lower limbs 0008994
Proximal muscle weakness in upper limbs 0008997
Proximal upper limb amyotrophy 0008948
Rimmed vacuoles 0003805
Scapular winging
Winged shoulder blade
0003691
Spinal rigidity
Reduced spine movement
0003306
Sprengel anomaly
High shoulder blade
0000912
Toe walking
Toe-walking
0040083
Type 1 muscle fiber atrophy 0011807
Waddling gait
'Waddling' gait
Waddling walk
[ more ] 		0002515
5%-29% of people have these symptoms
Atrioventricular block
Interruption of electrical communication between upper and lower chambers of heart
0001678
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Hyperlordosis
Prominent swayback
0003307
Ichthyosis 0008064
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Lipodystrophy
Inability to make and keep healthy fat tissue
0009125
Muscular hypotonia
Low or weak muscle tone
0001252
Obesity
Having too much body fat
0001513
Ptosis
Drooping upper eyelid
0000508
Scoliosis 0002650
Supraventricular arrhythmia 0005115
1%-4% of people have these symptoms
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Respiratory insufficiency due to muscle weakness
Decreased lung function due to weak breathing muscles
0002747
Sudden cardiac death
Premature sudden cardiac death
0001645
Ventricular escape rhythm 0005155
Vocal cord paralysis
Inability to move vocal cords
0001605
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Last updated: 7/1/2020
Risks to children of an individual with Emery-Dreifuss muscular dystrophy will vary depending on if he or she has the X-linked, autosomal dominant, or autosomal recessive form. The X-linked form is the most common type. Below we have provided general information regarding the X-linked form and risks to children. For his specific risks, we strongly recommend that your friend speak with a genetic professional. 

In X-linked Emery-Dreifuss muscular dystrophy an affected father cannot pass the condition to his sons, but all of his daughter's will be carriers for the condition (and therefore future grandson's will be at an increased risk). Female carriers of X-linked Emery-Dreifuss muscular dystrophy usually do not experience muscle weakness and wasting, but may develop heart problems associated with this disorder.[1]

You can read further details regarding X-linked, autosomal dominant, and autosomal recessive inheritance by clicking on the links below.
X-linked-http://www.nlm.nih.gov/medlineplus/ency/article/002051.htm
Autosomal dominant-http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm
Autosomal recessive-http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm
Last updated: 8/16/2013

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
Age of onset and severity (rate of progression) of muscle weakness and wasting can vary significantly between people with this dystrophy. Muscle weakness typically begins in the upper arms and lower legs, followed by the shoulders and hips. The progression of muscle weakness is usually slow in childhood and young adulthood. Muscle symptoms may begin to progress more rapidly in adulthood (for some begining in their 30's). Despite progression, most people with Emery-Dreifuss muscular dystrophy never lose their ability to walk.[2]

Heart problems is of significant concern for people with Emery-Dreifuss muscular dystrophy.  These problems often arise around the second decade of life (age 10 to 19). Complications from the heart problems can become life-threatening, however treatments are avaiable to help control these symptoms and reduce this risk.[2]
Last updated: 8/16/2013

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The main differential diagnoses include other forms of myopathy with joint contractures, with or without cardiac involvement (Bethlem myopathy, SEPN1 and FKRP-related myopathies); the desmin-related myopathies; proximal myotonic myopathy; and certain forms of LGMD with cardiac involvement.
Visit the Orphanet disease page for more information.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Emery-Dreifuss muscular dystrophy. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Emery-Dreifuss muscular dystrophy in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Emery-Dreifuss muscular dystrophy. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My friend has Emery-Dreifuss muscular dystrophy. I've been trying to learn as much as I can so that I can try to help him cope. I hope you can answer my questions. I know it said that 1 in 100,000 people have this disease but how many people in America are actually living with it? Is it a disease that he could pass on to his children? Can he live a normal life? I know that it is a disease that makes his muscles weak, but how fast does this happen? See answer


  1. Emery-Dreifuss muscular dystrophy. Genetics Home Reference. June 2006; http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy. Accessed 8/16/2013.
  2. Bonne G et al.,. Emery-Dreifuss Muscular Dystrophy. GeneReviews. September 29, 2004; http://www.ncbi.nlm.nih.gov/books/NBK1436/. Accessed 8/16/2013.