autosomal dominant Emery-Dreifuss muscular dystrophy 4

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Ventricular septal hypertrophy
• Muscular dystrophy
• Proximal amyotrophy
• Proximal muscle weakness
• Neck muscle weakness

Also known as: EDMD4; Emery-Dreifuss muscular dystrophy 4 with variable features; Emery-Dreifuss muscular dystrophy 4, autosomal dominant