Congenital myopathy

Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily affects skeletal muscle fibres and causes muscular weakness and/or hypotonia. Congenital myopathies account for one of the top neuromuscular disorders in the world today, comprising approximately 6 in 100,000 live births every year.^[1] As a whole, congenital myopathies can be broadly classified as follows:

• A distinctive abnormality in skeletal muscle fibres on the cellular level; observable via light microscope
• Symptoms of muscle weakness and hypotonia
• Is a congenital disorder, meaning it occurs during development and symptoms present themselves at birth or in early life.
• Is a genetic disorder.