autosomal recessive limb-girdle muscular dystrophy type 2U

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Scapular winging
• Lower limb muscle weakness
• Calf muscle hypertrophy
• Reduced forced vital capacity
• Loss of ambulation
• Hypoglycosylation of alpha-dystroglycan
• Limb-girdle muscular dystrophy
• Macroglossia
• Muscle weakness

Also known as: LGMD2U; MDDGC7; autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency; muscular dystrophy limb-girdle type 2U; muscular dystrophy-dystroglycanopathy (limb-girdle) type C7