autosomal recessive limb-girdle muscular dystrophy type 2B

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.

Signs and symptoms

• Skeletal muscle atrophy
• Elevated circulating creatine kinase activity
• Proximal muscle weakness
• Loss of ambulation
• Muscle fiber splitting
• Difficulty climbing stairs
• Muscular dystrophy
• Fatigue
• Increased connective tissue
• Difficulty running

Also known as: LGMD2B; LGMD3; limb-girdle muscular dystrophy due to dysferlin deficiency; limb-girdle muscular dystrophy type 3