Diagnosis of McArdle's disease is based on :
(i) clinical picture
(ii) absence of increased venous lactate during forearm ischaemic exercise test
(iii) low or absent myophosphorylase activity on histochemical or biochemical examination of muscle biopsy
(iv) genetic testing
DNA analysis should allow diagnosis of the disease from peripheral lymphocytes thus rendering the muscle biopsy obsolete.
Notes:
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