Central Core Disease Research Paper
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. …show more content…
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 (swimming, walking, and peddling are the best types of
excercises)
• Corrective surgery: fixes the posture by aligning the spinal column. Rods, wires, and screw are inserted.
Sources
• “Central Core Disease." WebMD Children's Health Center - Kids Health and Safety Information for a Healthy Child. Web MD, 2009. Web. 20 Feb. 2011.
• "Central Core Disease." Muscular Dystrophy Campaign, 2008. Web. 20 Feb. 2011.
• 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. …show more content…
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 (swimming, walking, and peddling are the best types of
excercises)
• Corrective surgery: fixes the posture by aligning the spinal column. Rods, wires, and screw are inserted.
Sources
• “Central Core Disease." WebMD Children's Health Center - Kids Health and Safety Information for a Healthy Child. Web MD, 2009. Web. 20 Feb. 2011.
• "Central Core Disease." Muscular Dystrophy Campaign, 2008. Web. 20 Feb. 2011.