Diagnosis Limb girdle muscular dystrophy 2A (LGMD2A)

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 may also show raised levels which indicate a problem in the muscles.

The diagnosis has to be confirmed by identifying a mutation in the calpain 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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