Central Core Disease Research Paper

Decent Essays
“Doak realizes there are many people with muscle diseases who are far worse off than she. ‘But,’ she says, ‘In my mind, I used to be able to do things that now I can’t. It’s still bothersome,’” –Sandy Doak, victim of Central Core Disease. Central Core Disease, or CCD, affects one the body’s most major systems –muscular, in a way that everyday people cannot imagine from infancy to adults. Patients with Central Core Disease go through more than muscle weakness but also more complications that come along with this disease. Central Core Disease affects the muscle system, and although it is typically not progressive, it can also cause poor fetal movement, scoliosis, hip dislocation and joint contractures. The muscle system is very important to…show more content…
There are main ways of diagnosing this disease physically; early-onset and later-onset. In early-onset, doctors look for hypotonia - poor fetal movement, respiratory insufficiency; delayed motor milestones, scoliosis, congenital hip dislocation, high-arched palate, foot deformities and joint contractures, such as spondylocostal dysostosis. For later-onset, which is more rare, they look for mild symmetric myopathy, mildly affected facial muscles and occasional involvement of the extraocular muscles, (Quinlivan 3). With the early-onset diagnosis, physical therapy would benefit from the patients experiencing hypotonia, scoliosis and joint contractures. Respiratory support, breathing exercises and chest physiotherapy would be used for those with breathing problems caused from Malignant Hyperthermia. “Iannaccone also recommends consultations with a nutritionist to make sure patients are getting enough fluid, potassium and calcium, because a lack of any of these can contribute to cramping episodes,” (Wahl 3). Getting calcium back into your body is a major key while having this disease, as your body’s regular circulation of calcium is off. As of right now, there is no cure for Central Core Disease, only supportive and rehabilitation measures. “MDA’s current commitment to research in CCD, as of Jan. 25, 2010, is $1,156,989, spread over seven grants,” (Wahl 1). In the past six years, the research has grown and will
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