McArdle Disease Report

McArdle DiseaseMcArdle Disease is a metabolic myopathy caused by an enzymatic defect that does not allow energy production in muscle tissue, resulting in exercise-induced painful cramps, premature muscle fatigue, rhabdomyolysis and myoglobinuria. The inheritance is autosomal recessive and the age of onset is in childhood.1 gene analyzed genes analyzed It is recommended if: Among the various clinical investigations that can be done to evaluate McArdle Disease, the genetic test is the one that allows the diagnosis to be established with certainty, through the identification of homozygous or compound heterozygous variants in the PYGM gene. List of main conditions: McArdle disease