Which feature is a key EDMD characteristic?

• A. Cardiac involvement requiring monitoring or pacemaker
• B. Facial weakness and winged scapula
• C. CK levels elevated
• D. Slow progression

Answer: (A)

Cardiac involvement with rhythm problems or heart block is a hallmark of Emery-Dreifuss muscular dystrophy. This disease often affects the cardiac conduction system early, leading to arrhythmias or heart block that requires close monitoring and can necessitate a pacemaker. The need for a pacemaker or ongoing cardiac surveillance is a distinctive and critical feature that drives management in EDMD, beyond the skeletal muscle weakness and contractures.

Other findings can appear in various muscular dystrophies or aren’t as defining for EDMD: facial weakness with winged scapula isn’t specific to EDMD, CK levels can be normal or only mildly elevated, and progression can vary rather than being a defining characteristic.