Clinical Features of Pompe Disease with Motor Neuronopathy

Clinical Features of Pompe Disease with Motor Neuronopathy, Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive glycogen storage disease, which results from deficiency of acid α-glucosidase, leading to impairment of glycogen degradation in lysosomes [1]., Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive glycogen storage disease, which results from deficiency of acid α-glucosidase, leading to impairment of glycogen degradation in lysosomes [1]. Subsequently, the glycogen accumulation in skeletal and cardiac muscles causes progressive myopathy and cardiomegaly with weakness and hypotonia of four limbs and heart failure. With the advent of enzyme replacement therapy (ERT), the life expectancy markedly increases from 1 year to more than decade in infantile-onset Pompe disease [2]., admin,