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Myopathy is a disease of muscle in which the muscle fibers do not function properly. This results in muscular weakness. Myopathy simply means muscle disease (Greek myo- muscle + patheia < -pathy suffering). This meaning implies that the primary defect is within the muscle, as opposed to the nerves (neuropathies or neurogenic disorders) or elsewhere (e.g., the brain).
Congenital myopathy is a very broad term for any muscle disorder present at birth. 1  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.