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 is often within the normal range or mildly elevated. Unusually, in a few cases, CK elevation may be much more marked.
The diagnosis has to be confirmed by identifying a mutation in the Lamin A/C 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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