Rare Neurology News

Disease Profile

Emery-Dreifuss muscular dystrophy

Prevalence
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

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Childhood

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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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 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]

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 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

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.

    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

      Organizations Providing General Support

        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

            1. Emery-Dreifuss muscular dystrophy. Genetics Home Reference. June 2006; https://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; https://www.ncbi.nlm.nih.gov/books/NBK1436/. Accessed 8/16/2013.

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