muscular dystrophy-dystroglycanopathy type C8

A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in

A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Calf muscle hypertrophy
• Delayed speech and language development
• Intellectual disability
• Distal amyotrophy
• Global developmental delay
• Motor delay
• Gowers sign
• Proximal muscle weakness

Also known as: LGMDR24; MDDGC2; autosomal recessive limb-girdle muscular dystrophy 24; muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8; muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related