Congenital myopathy

Congenital myopathy is a broad term for any muscle disorder present at birth that primarily affects skeletal muscle fibers, causing muscular weakness and reduced muscle tone, known as hypotonia. Congenital myopathies as a group are defined by a distinctive abnormality visible in skeletal muscle fibers under a light microscope, together with weakness and hypotonia originating during fetal development and appearing at birth or in early childhood. They are genetic disorders with inherited causes and are counted among the leading categories of neuromuscular disorders worldwide, affecting roughly six of every 100,000 live births. The condition primarily affects the neuromuscular system, with effects centered on skeletal muscle structure and function, and is studied and treated within neurology.