Muscle pain in myophosphorylase deficiency (McArdle’s disease): The role of gender, genotype, and pain-related coping

Pain characteristics were examined in 24 patients with myophosphorylase deficiency (McArdle’s disease). Pain parameters were related to mutation analyses as well as psychosocial data using a pain questionnaire including an assessment of psychosocial distress and coping measures (Beck Depression Inventory BDI; Kiel Pain Inventory KPI, Multidimensional Fatique Inventory MFI). Twenty-three patients complained of pain, which was intermittent and exercise-induced in 15 patients. Eight patients complained of permanent pain, which was superimposed by exercise-induced pain in 7 patients. Patients reported 3–7 different pain characters and various localisations. Patients with permanent pain were significantly more frequently female, experienced higher impact on general activities and sleep as well as higher scores on the MFI. Furthermore, these patients revealed higher scores regarding several psychosocial risk factors including avoidance behavior whereas patients with intermittent pain predominantly showed endurance coping. There was no correlation between age or disease duration, pain intensity as well as mutation type and development of permanent or intermittent pain. In addition, severity of the clinical phenotype did not correlate with ACE polymorphism. Although McArdle’s disease is a muscle glycogenosis with marked biochemical homogeneity, the clinical presentation can be quite heterogeneous. A substantial number of patients revealed permanent pain as a major clinical symptom. As permanent pain is not related to age or disease duration, it might be a clinically important subgroup of McArdle’s disease. Gender-related genetic factors as well as maladaptive pain-related coping may contribute to the development of such a chronic pain symptom.