Central Core Disease

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Description: The central core disease is a disorder which is known to affect the skeletal muscles—muscles that are needed for movement. It generates weakness within the muscles. It also damages the tone of skeletal muscles and hardens their ability to contract with ease.

Signs and symptoms
• poor muscle tone (hypotonia)
• weakness in muscles (often in facial muscles)
• Muscle cramps
• skeletal deformities such as joint dislocations and scoliosis • Delayed physical development
• Delay in walking and climbing
• Mild muscle wasting

Causes/Transmission/Prevention
Central Core Disease is often caused by defects in a gene called ryanodine receptor, which carries the directions to discharge calcium from the muscle cells. Not all causes have been found. •The exact cause of this bone cancer is not known, but it may be due to genetic or chromosomal factors. Chondrosarcoma is not contagious. •Some conditions that are present when chondrosarcoma occurs. Enchondroma, Osteochondroma, Multiple Exostoses, Ollier’s Disease, and Maffucci’s Syndrome. •Mostly, chondrosarcoma occurs from normal healthy cartilage cells, but may also arise from pre-existing cartilage tumor or benign (non-cancerous) bone. Incidence

Central Core Disease is an uncommon disorder. It is present at the time of birth and is usally diagnosed at an early age. •It is present in ever 6/100,000 live births
Regional studies show that Northern Ireland and Western Sweden have a higher number of patients with Central Common Disease. Prognosis
The prognosis for Central Core Disease usually depends on condition of the patient and the degree of severity. Most patients are able to walk independently. In severe cases, however, disability and respiratory damage may be permanent. Progression occurs slowly. Treatment

Physiotherapy: helps maintain mobility and function, delay the formation of scoliosis, and possibly prevent contractures. •Exercise: can help strengthen the muscles...
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