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.

This creates problems in vesicles reaching the plasma membrane with the cellular components necessary to fuse myoblast, a major step in the formation of the skeletal muscle.

Tests can be run to check creatine kinase in the blood, which is often normal or mildly elevated in congenital myopathies.

Diagnosis usually relies on this method, as creatine kinase levels and electromyography can be unreliable and non-specific.

Histologically, nemaline rods stain red with Gomori's trichrome and are mostly seen in the subsarcolemmal region of muscle fibres.

People affected by this disease typically are wheelchair-reliant by middle adulthood, have weakness in the muscles involved in eye movement, nerve function disorders, and some form of intellectual disability.

Central core disease is believed to be more prevalent than currently reported, as it is hard to recognize and often misdiagnosed in early childhood.

[1] Central core disease has been found to be allelic with malignant hyperthermia,[11] which is a life-threatening anesthetic reaction that causes a rise in body temperature, muscular rigidity and muscular breakdown, grossly elevated creatine kinase, and acidosis.

[1] Congenital fiber type disproportion affects skeletal muscle, typically causing weakness in the shoulders, upper arms, thighs, and hips.

Tubular aggregates are abnormal accumulations of membranous tubules and have been observed in a wide variety of muscle diseases and originate from the sarcoplasmic reticulum.

Phenotypes are quite variable, and manifestations can include weakness, abnormal gait, myotonia, cramps, and scoliosis.

Depending on the severity, there are different therapies available to help alleviate any pain and aid patients in performing varying activities.

For example, many congenital myopathy patients are involved in physical or occupational therapy in an attempt to strengthen their skeletal muscles.