Living with Emery-Dreifuss muscular dystrophy
An inherited condition with tight joints and slowly worsening muscle weakness, along with heart problems that develop by adulthood.
Understanding Emery-Dreifuss muscular dystrophy
Among the earliest features are joint contractures, which limit movement in the elbows, ankles, and neck and are usually noticed in early childhood. Muscle weakness and wasting slowly worsen, starting in the upper arms and lower legs. Almost everyone develops heart problems by adulthood, such as electrical signal problems and abnormal heart rhythms, which can cause palpitations, a slow heartbeat, fainting, or heart failure if untreated. There are X-linked, autosomal dominant, and autosomal recessive types.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tight joints (contractures) in the elbows and neck
- Weakness in the upper arms and lower legs
- Stiff spine
- Shortened Achilles tendons
- Changes in walking
- Heart rhythm problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Muscular Dystrophy Association and Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Muscular Dystrophy Association, Children's Cardiomyopathy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Muscular Dystrophy Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in a person's genes cause this condition. It can be X-linked, autosomal dominant, or autosomal recessive.
Also known as: benign scapuloperoneal muscular dystrophy with early contractures; edmd; emd - emery-dreifuss muscular dystrophy; emery dreifuss muscular dystrophy; humeroperoneal neuromuscular disease, (formerly); scapuloperoneal syndrome, x-linked (formerly)
Patient organizations
- Muscular Dystrophy AssociationEmery-Dreifuss muscular dystrophy · United States
- Cure CMD - Congenital Muscular DystrophyEmery-Dreifuss muscular dystrophy · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Emery-Dreifuss muscular dystrophy.
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