autosomal recessive limb-girdle muscular dystrophy type 26

An autosomal recessive limb-girdle muscular dystrophy characterized by adult-onset weakness that primarily affects the proximal muscles of the lower limbs that has_material_basis_in homozygous mutation in the POPDC3 gene on chromosome 6q21.

Signs and symptoms

• Highly elevated creatine kinase
• Calf muscle hypertrophy
• Difficulty running
• Proximal lower limb muscle weakness
• Fatty replacement of skeletal muscle
• Falls
• Proximal muscle weakness
• Muscle fiber necrosis
• Increased variability in muscle fiber diameter

Also known as: LGMDR26