【摘要】 目前已知的糖原累积病至少可分为16种类型,McArdle病(肌肉磷酸化酶缺乏症)为少数仅影响肌肉的糖原累积病,有其特征性的临床表现。前臂缺血试验有较高的敏感性和特异性,但明确诊断还需酶学的生化检查。基因学的检测有利于对该病进一步的认识。更多还原

【Abstract】 Now glycogen storage diseases (GSDs), or glycogenoses, comprise at least 16 subtypes among which McArdle disease(Myophosphorylase deficiency) is an example which invovles muscle only. It has its own clinical characteristic. Forearm ischemic test is a kind of diagnostic method with high sensitivty and specialty. Biochemical test of phosephorylase acitivity of the musle tissure is needed to confirm the diagnosis. Genetic study is helpful to further understanding the disease.更多还原