Author/Authors :
İncecik, Faruk Çukurova University - Faculty of Medicine - Division of Pediatric Neurology, Turkey , Hergüner, Özlem M Çukurova University - Faculty of Medicine - Division of Pediatric Neurology, Turkey , Mert, Gülen Çukurova University - Faculty of Medicine - Division of Pediatric Neurology, Turkey , Besen, Şeyda Çukurova University - Faculty of Medicine - Division of Pediatric Neurology, Turkey , Kor, Deniz Çukurova University - Faculty of Medicine - Department of Pediatrics, Division of Pediatric Metabolism, Turkey , Yılmaz, Berna S Çukurova University - Faculty of Medicine - Department of Pediatrics, Division of Pediatric Metabolism, Turkey , Mungan, Neslihan Ö Çukurova University - Faculty of Medicine - Department of Pediatrics, Division of Pediatric Metabolism, Turkey , Altunbaşak, Şakir Çukurova University - Faculty of Medicine - Division of Pediatric Neurology, Turkey
Abstract :
McArdle’s disease, defined by the lack of functional glycogen phosphorylase in striated muscle, is inherited as an autosomal recessive trait. Patients typically suffer from reduced exercise tolerance, with muscle cramps and pain provoked by exercise, along with easy fatigability and weakness after exercise. Following prolonged exertion, contractures, rhabdomyolysis, and myoglobinuria may occur. Central nervous system symptoms have rarely been reported in McArdle disease. In this case report, a 13-year-old boy with epilepsy and McArdle’s disease is presented.
