X-linked Emery-Dreifuss muscular dystrophy 1

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.

Signs and symptoms

• Skeletal muscle atrophy
• Achilles tendon contracture
• Elevated circulating creatine kinase activity
• First degree atrioventricular block
• Knee flexion contracture
• Absent P wave
• Loss of ambulation
• Palpitations
• Elbow flexion contracture
• Type 1 muscle fiber atrophy

Also known as: EDMD1; EMD1; Emery-Dreifuss muscular dystrophy 1, X-linked; humeroperoneal neuromuscular disease; muscular dystrophy, tardive, Dreifuss-Emery type, with contractures