Clinical and Pathological Features of Late-onset Glycogen Storage Disease Type II

Aim:To investigate the clinical and pathological features of late-onset glycogen storage disease type Ⅱ(GSD type Ⅱ).Methods: Eleven GSD type Ⅱ patients were followed up,and their clinical profiles and pathological data were reviewed retrospectively.Results: Eleven late-onset cases presented with a slowly progressive proximal myopathy,some with predominant respiratory insufficiency.Serum creatine kinase was mildly to moderately elevated(262~1 802 U.L-1).Electromyography indicated a definite myopathy in 9 patients,and abnormal irritability in 3 patients.The common muscle pathological feature was a vacuolar myopathy with high glycogen content and acid phosphatase acitvity in the vacuoles.Conclusion: Late-onset GSD type Ⅱ often presented slowly progressive myopathy,which often affected the limb and respiratory muscles.The CK level was usually mildly to moderatly elevated,muscle pathology showed remarkable vacuolar myopathy.The α-glucosidase activity was significantly reduced,which could help to diagnose.