Autophagic myopathies / myofibrillar myopathies / distal myopathies / pompe disease

Pompe disease is caused by mutations of the acid α-glucosidase gene (GAA) that result in reduced activity of the lysosomal enzyme GAA. Pompe disease can be divided into infantile-onset (IOPD) and late-onset (LOPD) type. Enzyme replacement therapy (ERT) has deeply modified the clinical history of Infantile Onset Pompe Disease (IOPD). This is a ret rospective observational study of 4 patients with IOPD that have been followed up for 10 years. All the patients presented at the neonatal period severe hypotonia and hypertrophic myocardiopathy.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: C. Ortez, L. Carrera, J. Exposito, D. Natera, S. Zambudio, J. Colomer, A. Baz án, A. Pareja, E. Bobadilla, V. Sáez, J. Medina, C. Jou, A. Codina, J. Corbera, D. Yubero, L. Martorell, C. Jimenez-Mallebrera, A. Nascimento Source Type: research