Tuesday, August 19, 2008

Central core disease


Central core disease is a congenital myopathy defined by the presence on muscle biopsy microscopy of numerous muscle fibers that lack oxidative activity, thus making "cores" on NADH-stained slides within muscle fibers. Reported to be one of the most frequent forms of congenital myopathy, this disease usually becomes apparent in infancy or childhood. Facial, neck, and proximal limb weakness with generalized hypotonia are the characteristic clinical features; but phenotypic severity is widely variable. The disease is linked to a ryanodine receptor gene mutation (RYR1, chromosome 19q13). The ryanodine receptor is depicted in the illustration. Malignant hyperthermia is highly associated with central core disease, independent of the degree of muscle weakness.

(Main source: Mark Cohen's chapter in Prayson's Neuropathology, A volume in the Foundations in Diagnostic Pathology series, first edition)

5 comments:

JD said...

Did you just have a case? We've had a case of centronuclear myopathy and a couple cases of nemaline myopathy in the past year, but I've never seen this outside of a book.

Anonymous said...

I'm 40 years old and just had a muscle biopsy to diagnos central core disease. Both siblings have it, father & niece. It's getting more progressive through the generations. My symptoms did not appear until my 20's. They are getting worse, but not severe. I have developed mild scoliosis, have signs of MVP and proximal muscle weakness. There's not much info on the disease and my dr didn't offer much either.

Claire said...

I'm 32 years old and have central core disease. I was diagnosed shortly after birth. Just googling it again as I occasionally do! I was born with dislocated hips and right hip is now fine. Left hip bit stiff and I walk a bit funny, but that's probably a bit more to do with how they fixed it (better than it coming out of its socket all the time). I have slight scoliosis, have trouble walking up stairs, get very tired and can't jump or run. I agree that not a lot of info out there, but check with your local muscular dystrophy association as they should have some info.

Brian E. Moore, MD said...

Thanks to "anonymous" and to Claire for providing insight into what its like to have myopathy. I usually only think of how it looks under the microscope. It's good to be reminded that there are real people associated with our microscopic slides!

raja said...

Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: http://www.accessdna.com/condition/Central_Core_Disease/80. I hope it helps. Thanks, AccessDNA