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 (which measures muscle damage) may also show raised levels which indicate a problem in the muscles.
The diagnosis has to be confirmed by identifying a mutation in the FKRP 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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