Emery-Dreifuss Muscular Dystrophy typically presents with which early contractures?

• A. Elbow, shoulder, and neck contractures
• B. Wrist and finger contractures
• C. Plantarflexion contractures only
• D. Elbow, ankle, and neck contractures

Answer: (D)

Emery-Dreifuss Muscular Dystrophy shows a characteristic early pattern of contractures in three key joints: the elbows, the ankles, and the neck. These contractures reflect selective involvement of muscles that extend or stabilize these joints—the elbow flexors, the ankle plantarflexors, and the neck flexors/paraspinals—leading to fixed positions early in the disease often before marked proximal weakness becomes obvious. Among the options, the combination describing elbow, ankle, and neck contractures best matches this classic triad, making it the most accurate representation of early contractures in this condition. Patterns like wrist and finger contractures or plantarflexion alone don’t capture the typical early involvement, and shoulder contractures aren’t as reliably early or defining.