Rare Pediatrics News
Disease Profile
Emery-Dreifuss muscular dystrophy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Childhood
ICD-10
G71.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
EDMD; Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; Scapuloperoneal syndrome, X-linked (formerly);
Summary
Emery-Dreifuss muscular dystrophy is a condition that affects the joints, muscles, and heart. Joint symptoms tend to present in childhood and involve
Symptoms
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.
| 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 |
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 |
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 |
Low or weak muscle tone
|
0001252 |
| Obesity |
Having too much body fat
|
0001513 |
|
Drooping upper eyelid
|
0000508 | |
| 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 |
Treatment
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.
Related diseases
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.
|
Organizations
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
-
Cure CMD Congenital Muscular Dystrophy
19401 S. Vermont Ave., Suite J100
Torrance, CA 90502
Telephone: 323-250-2399 or 424-265-0874
E-mail: info@curecmd.org
Website: https://www.curecmd.org/
Organizations Providing General Support
-
Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: resourcecenter@mdausa.org
Website: https://www.mda.org
Learn more
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.
References
- Emery-Dreifuss muscular dystrophy. Genetics Home Reference. June 2006; https://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy. Accessed 8/16/2013.
- Bonne G et al.,. Emery-Dreifuss Muscular Dystrophy. GeneReviews. September 29, 2004; https://www.ncbi.nlm.nih.gov/books/NBK1436/. Accessed 8/16/2013.
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