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.
Download your alert card
Alert cards are conveniently shaped to fit inside a wallet and outline key recommendations and precautions that a non-specialist clinician would need to know during a time of worsening health.