Diagnosis Limb girdle muscular dystrophy 2B (LGMD2B)

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 (up to 100 times the normal range) which indicate a problem in the muscles.

The diagnosis has to be confirmed by identifying a mutation in the dysferlin 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. Because this is a very large gene, testing is very lengthy and results may take several months to become available.

a lightbulb icon

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.