Pompe disease: a short comment

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 interest of both social and scientific communities. This is the case of Glycogen storage disease type II or Acid maltase deficiency, better known as Pompe disease, named in honour of Johannes C. Pompe who first described the disease in an infant, in 1932. Pompe disease is an autosomal recessive metabolic disorder which particularly affects skeletal muscles. It is caused by the deficiency of the enzyme acid-alfaglicosidase (GAA). The disease is progressive, with a great inter and intra-familial variability in both the onset and the evolution of symptoms. The increasing interest in Pompe disease derives from the possibility to cure it by enzyme replacement therapy (ERT) making of great importance an early diagnosis. For these reasons, we are very happy to dedicate part of the current issue of Acta Myologica to the Pompe disease. We are very grateful to the experts who gave their contribution in this project, with works on classic presentation (F. Manganelli), unusual clinical aspects (L. Maggi et al.) and extra muscle involvement (M. Filosto et al) in Pompe disease. A particular thank to A. Toscano who presents a new algorithm for the diagnosis of adult Pompe disease and to the group of A. Bravo-Oro who report a novel mutation in patients with Pompe disease of Mexican origin. The continuous progresses in the knowledge and treatment of Pompe disease encourages us to believe that a better future will be for all patients affected by genetic muscle disorders.