The diagnosis can be suspected by findings on a muscle biopsy or when a doctor experienced in muscular dystrophy examines you.
A serum creatine kinase (CK) blood test is often mildly elevated, but in a few cases, CK elevation may be much more marked. Some people may not have any weakness and show only raised serum CK levels.
The diagnosis has to be confirmed by identifying a mutation in the caveolin 3 gene which is done on a DNA sample from a blood test. This is often done following a clue from the muscle biopsy or examination.
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