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What is central core disease?

Central core disease is a congenital condition affecting the muscles and skeleton. The disease causes muscle weakness that can either be minimal or severe. For some, the disease remains mild throughout their life, but for others, it may present serious breathing problems. The disease gets its name from the small areas within the muscle fibers that look like cores. It is unclear how these cores influence muscles.

Central core disease is a hereditary muscle disease which is present at birth and is characterized by arm and leg weakness manifesting as difficulty raising the arms above the head, standing from a chair or climbing stairs.  Most children attain normal motor milestones and infact learn to walk at a normal age however may notice difficulty in participating in certain sports or activities.  Most patients with central core disease are able to walk relatively normally or with minimal difficulty into old age; as it is a congenital (present at birth) muscle disease, patients for the most part do not experiences progressive muscle weakness.  Some patients become stronger with age and can be nearly asymptomatic. 

In addition to muscle weakness, central core disease can cause deformities of the spine (e.g. scoliosis), heart enlargement and malignant hyperthermia - a life threatening reaction to certain anesthetics.  

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