autosomal recessive limb-girdle muscular dystrophy type 23

An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation

An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Gowers sign
• Sensorimotor neuropathy
• Axonal degeneration
• Difficulty running
• Proximal lower limb muscle weakness
• Proximal upper limb muscle weakness
• Areflexia
• Internally nucleated skeletal muscle fibers
• Kyphosis

Also known as: LGMDR23