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central core disease

   Also found in: Acronyms 0.01 sec.
central core disease,
an autosomal-dominant form of myopathy characterized by dense, amorphous hyaline changes in the central portion of the myofibrils, which lack organelles. Onset is in infancy and causes delayed motor development, especially in the lower limbs. Also called Shy-Magee syndrome.


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Rebecca has a condition known as central core disease - a disorder that affects the muscles used for movement.
Other Myopathies This group of unrelated genetic muscle disorders (such as central core disease, nemaline myopathy, myotubular myopathy and mitochondrial myopathy) may cause diffuse weakness, some skeletal defomities and progressive muscle wasting, among other symptoms.
 
 
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