autosomal dominant Emery-Dreifuss muscular dystrophy 2

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Difficulty climbing stairs
• Gowers sign
• Reduced left ventricular ejection fraction
• Foot dorsiflexor weakness
• Peroneal muscle weakness
• Fatigue
• Interstitial cardiac fibrosis
• Left anterior fascicular block
• Arrhythmia

Also known as: EDMD2; EMD2; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Emery-Dreifuss muscular dystrophy, autosomal dominant; Hauptmann-Thannhauser muscular dystrophy