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Central core myopathy (also called central core disease of the muscles or just central core disease) is a rare genetic disorder that affects the muscles used for everyday movement.  The chief presenting symptoms of this condition include muscle weakness, floppiness of the muscles, frequent cramps, and is one of the conditions that produces the ‘floppy baby’ syndrome.

The reason behind this progressive muscle weakness is an absence of mitochondria in the center of many affected muscle fibers. A genetic mutation is believed to be behind the occurrence of central core myopathy and it is inherited as a dominant trait, which means that the child is going to suffer from the conditions even if any one parent is suffering from it.

Treatment of central core myopathy

The treatment of central core myopathy depends on the symptoms being exhibited by the patient. There can be a wide range of symptoms that are seen because not everyone is hit with the same degree of severity.

Some of the common problems that require management include muscle weakness, skeletal abnormalities, and an abnormal reaction to certain anesthetic medication.

Muscle weakness

Tests to determine the extent of muscular weakness will be carried out. Patients may show severe to mild muscle weakness with the most commonly affected muscles being present in upper legs and trunk of the body.

Physical therapy with low impact exercises has been shown to be helpful in improving muscle strength and tone over a long duration of time. Specific occupational physical therapy may also be of use to patients affected with central core myopathy.

Skeletal abnormalities

Patients with central core myopathy could have skeletal abnormalities that restrict their range of movement, scoliosis or curving of the spine, or suffer from dislocation of the hip.

Some of these range of movement problems can be addressed with physical therapy, however, other more serious ones will require surgery. Muscular weakness, particularly in those patients that have scoliosis as well, can compromise the function of the lungs.

A test to check for lung function is advisable. Depending on the results, patients may need help from an external breathing apparatus or via salbutamol medication if deemed appropriate by the doctor.

Reaction to anesthetic medication

A reaction called as malignant hyperthermia can occur in patients suffering from central core myopathy when they are administered anesthesia. The muscles of the patient start to go rigid and then break down, there is an increase in the heartbeat and the appearance of a high fever.

This is a very dangerous condition that needs to be managed as a medical emergency.


The prognosis, like the symptoms, varies greatly from patient to patient based on the clinical presentation of central core myopathy. There can be some patients that exhibit little to no symptoms and do not suffer any loss in quality of life while there are others that are unable to even walk without assistance.

The prognosis of patients suffering from central core myopathy worsens with the severity of symptoms. Even in the best case scenario, though, there has been a progressive, slow, weakening of muscles over the duration of the affected individual's life.


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