Anaïs Brassier, Samia Pichard, Manuel Schiff, Juliette Bouchereau, Claire-Marine Bérat, Catherine Caillaud, Aude Pion, Diala Khraiche, Brigitte Fauroux, Mehdi Oualha, Christine Barnerias, Isabelle Desguerre, Marie Hully, Marion Maquet, Elodie Deladrière, Pascale de Lonlay, Cyril Gitiaux
In Infantile Onset Pompe Disease (IOPD), enzyme replacement therapy (ERT) may improve survival, cardiac function, and motor development. However, even with early enzyme replacement therapy, some patients experienced poor response to ERT and abnormal motor milestones that could be due to motor neuron involvement. In this long-term retrospective study, we analyzed concomitant clinical motor outcomes and electroneuromyography (ENMG) findings in patients with IOPD and Juvenile Onset Pompe Disease (JOPD). Twenty-nine pediatric patients were included and 20 surviving were analyzed for neuromotor studies: 12 had IOPD (group 1), 4 had JOPD (group 2) and 4 (group 3) received ERT in the first month of age...
July 11, 2023: Molecular Genetics and Metabolism