Central core disease

Because the symptoms of central core disease can be quite variable, a physical examination alone is often not enough to establish a diagnosis. A combination of the following examinations and testings can diagnosis this condition: a physical examination that confirms muscle weakness, a muscle biopsy that reveals a characteristic appearance of the muscle cells, and/or genetic testing that identifies a mutation in the RYR1.

People with central core disease (CCD) can have very different symptoms, ranging from no symptoms to being unable to walk without assistance. People with CCD tend not to experience any notable worsening of muscle weakness throughout most of their life, however there can be a slow but definite progression over the course of many years.

Treatments for central core disease (CCD) depend on the symptoms experienced by each affected individual. When someone is first diagnosed with this condition, a physical examination is done to assess the extent and severity of muscle weakness, and physical therapy and occupational therapy assessments to determine which therapies might be most beneficial. Physical therapy, such as stretching or low-impact exercises, may help improve weakness. Some skeletal abnormalities can be addressed with physical therapy, though others may require surgery. As the muscle weakness and scoliosis associated with CCD can affect breathing, individuals diagnosed with this condition may benefit from pulmonary function tests. If breathing is significantly affected, breathing exercises or other breathing support treatments may be recommended. Another treatment option may be a medication called salbutamol, which was found to significantly increased muscle strength and stamina in six of eight children with CCD.