Living with Emery-Dreifuss muscular dystrophy 2, autosomal dominant
A type of muscular dystrophy linked to the LMNA gene, with slowly worsening weakness, tight joints, and heart rhythm problems.
Understanding Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Weakness starts in the arms and legs and slowly worsens. There is early tightness (contractures) of the elbows, Achilles tendons, neck, and spine. Heart problems include conduction block, where electrical signals are delayed or stop, and abnormal rhythms. Sometimes it can cause dilated cardiomyopathy, a heart muscle disease that can cause tiredness, weakness, and shortness of breath.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the arms and legs
- Tight joints (contractures)
- Heart rhythm problems (arrhythmia)
- Fainting spells
- Tiredness and shortness of breath
- Frequent falls and trouble climbing stairs
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
Your doctor may refer you to a specialist who knows rare conditions.
- 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 The Speak Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Muscular Dystrophy Association, The Speak 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 the LMNA gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: autosomal dominant limb-girdle muscular dystrophy caused by mutation in lmna; autosomal dominant limb-girdle muscular dystrophy type 1b; benign scapuloperoneal muscular dystrophy with cardiomyopathy; edmd2; edmd2 - autosomal dominant emery-dreifuss muscular dystrophy; hauptmann-thannhauser muscular dystrophy
Patient organizations
- Muscular Dystrophy AssociationEmery-Dreifuss muscular dystrophy 2, autosomal dominant · United States
- The Speak FoundationEmery-Dreifuss muscular dystrophy 2, autosomal dominant · United States
- Cure CMD - Congenital Muscular DystrophyEmery-Dreifuss muscular dystrophy 2, autosomal dominant · United States
You are more than your diagnosis
Perspectives from people navigating life with Emery-Dreifuss muscular dystrophy 2, autosomal dominant.
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