About Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy is characterised by the clinical triad of early joint contractures (elbows, ankles, and spine), slowly progressive humeroperoneal muscle weakness, and life-threatening cardiac disease including conduction defects and cardiomyopathy. It is caused by mutations in EMD (encoding emerin) in the X-linked form or LMNA (encoding lamins A/C) in autosomal forms. Sudden cardiac death due to complete heart block is a significant risk even in mildly affected individuals.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Emery-Dreifuss Muscular Dystrophy trials.
Cardiac eligibility is critical — most trials require a baseline 24-hour Holter monitor and echocardiogram; pacemaker or ICD presence may affect eligibility depending on the trial
Genetic subtype (EMD vs LMNA) determines trial eligibility as laminopathies and emerin-deficiency have distinct mechanisms and separate trial pipelines
Contracture severity graded by goniometry is a standard functional metric; document elbow and ankle range of motion formally before applying
Patient Resources
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