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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. 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. 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.