Central Core Disease (CCD) is a disorder that causes problems with the skeletal muscles. Muscle weakness experienced due to CCD ranges from mild to severe. It is also referred to as Central Core Myopathy or Shy-Magee Syndrome. The most common cause of this disease is the defects or mutations of a gene called the RYR1 gene. In some cases, the disease may be carried on from an affected parent to his/her child (“Central Core Disease”). Central core disease derived its name from the disorganized areas called cores, which are located at the center of muscle fibers in the affected individual.
These abnormal regions can only be viewed with a microscope. Although the presence of these cores can assist the doctors in diagnosing central core diseases, it is not cleae on how they are related to the occurrence of muscle weakness and the other features of this condition (Malicdan, Nichino, 2007). The physical effects of Central core disease is the most evident aspect of this muscular condition. Although this disease is not known to get worse over time, most patients with CCD claim to experience persistent mild muscle weakness.
The muscles near the center of the body, the leg and hip muscles in particular, are those most affected by this disease. This muscle weakness makes infants “floppy” in appearance and causes delay in the development of motor skills such as sitting, walking, and running. In frequent cases, infants suffer from hypotonia or weak muscle tone and difficulty in breathing. Moreover, this is also associated with skeletal abnormalities such as hip dislocation, scoliosis, and joint deformities (“Central Core Disease”).
Patients with CCD are also most likely to to develop a severe reaction to certain drugs used during surgery or anesthecia. This reaction is termed as “malignant hyperthermia. ” If given these kinds of drugs, the person may experience a “rapid heart rate, muscle rigidity, breakdown of muscle fibers, increased acid levels in the blood and other tissues, and high fever” (“Central Core Disease”). These complications may be lethal and must be treated immediately.
Some phsychological effects can also occur when a person has been afflicted by this condition. A pair of identical twins who were diagnosed with CCD only when they reached the age of 33 claimed that “the very mildness of their symptoms contributed to years of psychological suffering. ” This was due to their unawareness that their inabilities were due to a medical condition. Having a difficult time in simple activities such as running or going up the stairs, the twins were laughed at in school and got labeled as weird.
To comfort themselves, they rested on the premise that “it’s all in the head (Hesterlee, 2008). ” The very mildness of the disorder, as exhibited in the mentioned case, may prevent others from understanding that the disease is present and that each day has special challenges. In one reported case of CCD, the patient experienced “strange mental lapses” several years after he has been diagnosed with the disease. This was experienced together with the tremors, muscle cramps, and so on.
The muscular conditions can also have some social effects on the person, affecting the way they socialize with other people. People coping with CCD may have to use equipments to aid them in walking such as braces. Since it is known that the disease may be present since birth, children growing with CCD do not get to experience playing with the other children. Children with CCD may have a difficult time in socializing with other children because they do not get to interact much with them.