Emery-Dreifuss muscular dystrophy is a condition that affects the joints, muscles, and heart. Joint symptoms tend to present in childhood and involve
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||
|80%-99% of people have these symptoms|
|Elevated serum creatine phosphokinase||
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine kinase
High serum creatine kinase
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase[ more ]
Stiff joints[ more ]
|Limb-girdle muscular dystrophy||0006785|
|Reduced tendon reflexes||0001315|
|30%-79% of people have these symptoms|
|Absent muscle fiber emerin||0030117|
Shortening of the achilles tendon
Tight achilles tendon[ more ]
|Decreased cervical spine flexion due to contractures of posterior cervical muscles||0004631|
|Elbow flexion contracture||
Contractures of elbows
Elbow contractures[ more ]
|EMG: myopathic abnormalities||0003458|
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides[ more ]
|Increased LDL cholesterol concentration||
Increased circulating LDL level
Increased LDL cholesterol[ more ]
|Proximal lower limb amyotrophy||
Wasting of thigh muscle
|Proximal muscle weakness in lower limbs||0008994|
|Proximal muscle weakness in upper limbs||0008997|
|Proximal upper limb amyotrophy||0008948|
Winged shoulder blade
High shoulder blade
|Type 1 muscle fiber atrophy||0011807|
Waddling walk[ more ]
|5%-29% of people have these symptoms|
Stretched and thinned heart muscle
Round back[ more ]
Low or weak muscle tone
Having too much body fat
Drooping upper eyelid
Abnormal curving of the spine
|1%-4% of people have these symptoms|
Enlarged and thickened heart muscle
|Respiratory insufficiency due to muscle weakness||0002747|
|Sudden cardiac death||
Premature sudden cardiac death
|Ventricular escape rhythm||0005155|
|Vocal cord paralysis||
Inability to move vocal cords
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the neck||0000464|
Symptoms begin in childhood
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.
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.
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 (see these terms).
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.
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.
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
Rare Disease or Rare Success: A Tale of Two Genomes
March 7, 2016
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