Emery-Dreifuss muscular dystrophy
Other Names for this Disease
- Humeroperoneal neuromuscular disease, (formerly)
- Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
- Scapuloperoneal syndrome, X-linked (formerly)
Your QuestionMy 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?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is Emery-Dreifuss muscular dystrophy?
- How many Americans have Emery-Dreifuss muscular dystrophy?
- If a person has Emery-Dreifuss muscular dystrophy, are their children at risk for inheriting it?
- How can I find a genetics professional in my area?
- Can a person with Emery-Dreifuss muscular dystrophy live a normal life?
- What is the typical long-term outlook for people with Emery-Dreifuss muscular dystrophy?
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.
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.
You can read further details regarding X-linked, autosomal dominant, and autosomal recessive inheritance by clicking on the links below.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
Currently, there is not a cure for Emery-Dreifuss muscular dystrophy or treatments that can significantly slow or stop the progression of the disease. However symptom severity can vary, even between affected members of the same family. Your friend's doctors are best equipped to provide him with information regarding his symptoms and how his condition may affect him overtime.
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.
- Emery-Dreifuss muscular dystrophy. Genetic Home Reference. June 2006; http://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; http://www.ncbi.nlm.nih.gov/books/NBK1436/. Accessed 8/16/2013.