Skeletal and cardiac muscle involvement in children with glycogen storage disease type III

摘要

Glycogen storage disease type III (GSD III) may present with hepatic disease or may involve both skeletal and cardiac muscles as well. To assess the prevalence of neuromuscular and cardiac involvement in a group of children with GSD III, 28 children with GSD III, diagnosed by enzymatic assay, were enrolled in the study after an informed consent was obtained from their parents/guardians and after the study protocol was approved by our institutional ethical committee. Their mean age was 6.6+3.1 years. All cases were assessed neurologically by clinical examination, electromyography (EMG), and nerve conduction velocity. The heart was examined clinically by electrocardiogram and echocardiography. Seventeen patients (61 %) had myopathic changes by EMG, three of them had associated neuropathic changes. Creatine phosphokinase (CPK) was elevated in all myopathic cases except one. Children with myopathic changes were significantly older (p = 0.02), and CPK was significantly higher (p < 0.0001). Nine cases had left ventricular (LV) hypertrophy, seven of them had myopathic changes by EMG.