Characteristics of metabolic myopathies among Egyptian patients

Background Metabolic Myopathies are characterized by defect in muscle energy production. The main symptoms are exercise intolerance, fatigue, myalgias, rhabdomyolysis and weakness, they present with episodic or fixed manifestations. The main three types are Glycogen storage diseases, lipid storage diseases and mitochondrial myopathies. Results We included 125 participants. 121 were symptomatic, 1 had asymptomatic hyperCkemia, 3 were healthy carrier of pompe (children of one pompe patient). Only 38 had genetic tests which were confirmatory in 20. Only 8 patients had metabolic myopathies (6.4%); 7 had Pompe and one had debranching enzyme deficiency. Muscle biopsies were suggestive of mitochondrial myopathy in two, lipid storage myopathy in one, and glycogen storage myopathy in two. Conclusions This study provides information on the clinical, laboratory, radiological, pathohistochemical features of metabolic myopathies in Egyptian patients.