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In diagnosing any form of muscular dystrophy, a doctor usually begins by taking a patient and family history and performing a physical examination. Much can be learned from these, including the pattern of weakness. The history and physical go a long way toward making the diagnosis, even before any complicated diagnostic tests are done. The doctor also wants to determine whether the patient’s ...
- Signs and Symptoms
The symptoms of Emery-Dreifuss muscular dystrophy (EDMD)...
- Medical Management
Contractures Contractures develop early in Emery-Dreifuss...
- Causes/Inheritance
Causes / Inheritance What causes EDMD? Researchers recently...
- Emery-Dreifuss Muscular Dystrophy
What is Emery-Dreifuss muscular dystrophy? Emery-Dreifuss...
- Signs and Symptoms
What is Emery-Dreifuss muscular dystrophy? Emery-Dreifuss muscular dystrophy (EDMD) is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. It is named for Alan Emery and Fritz Dreifuss, physicians who first described the disorder among a Virginia family in the 1960s.
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You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The following organization(s) may maintain a list of experts or expert centers for people living with Emery-Dreifuss muscular dystrophy:
Emery-Dreifuss muscular dystrophy is caused by genetic changes in the EMD and LMNA genes. It can be inherited in an X-linked, autosomal dominant, or autosomal recessive fashion. 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 ...
- Emery-Dreifuss Muscular Dystrophy Symptoms
- Causes
- Diagnosis
- Treatment
- Prognosis
- Summary
- A Word from Verywell
The main symptoms of Emery-Dreifuss muscular dystrophy include: 1. Muscle weakness, often in the arms and legs 2. Muscle wasting(the muscles shrink) 3. Contractures(hardening of muscles that causes joint rigidity and deformity) 4. Heart issues Symptom severity can vary significantly and isn’t the same for everyone with Emery-Dreifuss muscular dystr...
Like other types of muscular dystrophy, Emery-Dreifuss is caused by genetic mutations. These have been identified in the following genes: 1. EMD 2. FHL1 3. LMNA These genes are involved in both skeletal and cardiac muscle function. Skeletal muscles are the ones you use to move your body. The heart is made up of cardiac muscle. When these genes malf...
In many cases of X-linked Emery-Dreifuss muscular dystrophy, contractures are the first sign that something is wrong, prompting someone to seek a diagnosis. For autosomal dominant cases, people will typically experience muscle weakness before contractures. Healthcare providers diagnose the condition based on a combination of clinical signs and gene...
While there’s no cure for Emery-Dreifuss muscular dystrophy, it’s possible to manage symptoms and improve quality of life. Treatment for heart problems can include: 1. Antiarrhythmic drugs 2. Implantation of a pacemaker(an implanted device that regulates the heart rhythm) 3. Cardioverter defibrillator implant(an implanted device that triggers to co...
Emery-Dreifuss muscular dystrophy is a progressive degenerative genetic condition. Unlike some other forms of muscular dystrophy, it can progress slowly, though the rate of degeneration varies. Most people don’t develop rapid degeneration until they reach their 30s. Some people may lose the ability to walk. People with this type of muscular dystrop...
Emery-Dreifuss muscular dystrophy is a rare progressive genetic condition that causes skeletal and heart muscle problems. It is inherited, but the inheritance pattern varies. Unlike other types of muscular dystrophy, it progresses slowly. Some people might not even develop symptoms or receive a diagnosis until they reach young adulthood. There’s no...
If you live with Emery-Dreifuss muscular dystrophy, working with a care team is crucial for managing symptoms and ensuring good quality of life. Living with a progressive degenerative disease like this one can be overwhelming. You may find it helpful to reach out to support groups and disease-specific organizations. They can help you connect to oth...
May 20, 2015 · Emery-Dreifuss muscular dystrophy (EDMD) is a rare, often slowly progressive genetic disorder affecting the muscles of the arms, legs, face, neck, spine and heart. The disorder consists of the clinical triad of weakness and degeneration (atrophy) of certain muscles, joints that are fixed in a flexed or extended position (contractures), and ...
The symptoms of Emery-Dreifuss muscular dystrophy (EDMD) usually become apparent by 10 years of age. Early signs include “toe-walking” because of stiff Achilles’ tendons in the heels, and difficulty bending the elbows. Other early symptoms include weakness and wasting of shoulder, upper arm and calf muscles. The contractures (joint stiffening) that occur early in EDMD may make arm, neck ...
