Fatigue and associated factors in 172 patients with McArdle disease: an international web-based survey

McArdle disease is an autosomal, recessively inherited metabolic disorder caused by pathogenic variants in the myophosphorylase gene (PYGM) [1], leading to a virtual absence of the enzyme myophosphorylase in skeletal muscle [2]. Consequently, patients cannot obtain energy from their muscle glycogen stores. The blocked muscle glycogen breakdown clinically presents itself as physical activity (PA) intolerance, muscle fatigue, and PA/exercise-induced muscle pain, which can lead to the feeling of loss of power, and in severe cases to muscle contractures and even rhabdomyolysis and myoglobinuria [3].

Source: Neuromuscular Disorders - November 10, 2023 Category: Neurology Authors: Anna Slipsager, Linda Kahr Andersen, Nicol Cornelia Voermans, Alejandro Lucia, Walaa Karazi, Alfredo Santalla, John Vissing, Nicoline L økken Source Type: research