Diagnosis Limb girdle muscular dystrophy 2L (LGMD2L)

The diagnosis can be suspected when a doctor experienced in muscular dystrophy examines you.

A serum creatine kinase (CK) blood test may also show raised levels (up to 30 to 50 times the normal range) which indicate a problem in the muscles. The diagnosis has to be confirmed by identifying the mutated gene (anoctamin 5 gene) which is done on a DNA sample from a blood test.

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