congenital muscular dystrophy due to integrin alpha-7 deficiency

A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.

Signs and symptoms

• Motor delay
• Muscle weakness
• Increased variability in muscle fiber diameter
• Torticollis
• Elevated circulating creatine kinase activity
• Skeletal muscle atrophy
• Scoliosis
• Muscular dystrophy
• Fatty replacement of skeletal muscle
• Hypotonia

Also known as: congenital muscular dystrophy with ITGA7 deficiency; congenital muscular dystrophy with integrin alpha-7 deficiency; congenital myopathy due to integrin alpha-7 deficiency