Introduction Pompe disease (glycogenosis II, acid maltase deficiency, OMIM 232300) is a treatable autosomal recessive disorder of glycogen metabolism caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. A hallmark of Pompe disease is the presence of glycogen-loaded lysosomes. Pompe disease has frequently been misdiagnosed as other myopathies, such as polymyositis, and mistakenly...

Pompe disease (PD) or glycogen storage disease type II, is an autosomal recessive disorder characterized by a defi ciency in the lysosomal enzyme acid alpha-glucosidase. Several phenotypes have been described, ranging from rapidly progressive infantile forms to slowly progressive late-onset forms. Recent studies have shown that magnetic resonance imaging (MRI), based principally on signal inten...

Pompe disease is a rare autosomal recessive disorder caused by α-glucosidase deficiency. Lower airway involvement and management are rare in patients with late-onset Pompe disease. We describe the case of a 16-y-old girl with late-onset Pompe disease who presented with obvious progressive deterioration in respiratory function. Pulmonary hypertension was also apparent on echocardiography. She ha...

An important part of the coordinated care by experienced health care teams for all Pompe disease patients, whether diagnosed through newborn screening (NBS), clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counseling helps families better understand medical recommendations and options presented by the patient's health care team so they can make informed decisions. In a...

The interest of the experts on the aspects of a disorder can change over time for three reasons: 1. discovery of new therapies; 2. improved knowledge; 3. increased levels of scientific research. This concept particularly applies to the field of genetic muscular dystrophies, were we can distinguish disorders generally well known for a long time and disorders that have only recently attracted the...