Titre : | A guide to Infantile Pompe Disease : Understanding Infantile Pompe Disease and treatment management |
Auteurs : | Fletcher J |
Type de document : | Reco PNDS |
Editeur : | Association for Glycogen Storage Disease, 2013 |
Pages : | 15 p |
Langues: | Anglais |
Mots-clés : | description de la maladie ; enzymothérapie ; kinésithérapie ; maladie de Pompe à début précoce ; prise en charge nutritionnelle ; tableau clinique ; trouble cardiaque ; trouble de la voix ; trouble respiratoire ; ventilation invasive ; ventilation non invasive |
Résumé : |
Pompe disease is a very rare disorder, which can affect infants, children and adults. It covers a very variable clinical spectrum, ranging from the slower ‘late onset’ form of the disease to a rapidly progressive, life threatening condition known as ‘infantile onset Pompe disease’. The infantile form is extremely rare and readily available information for parents and healthcare professionals is scarce. The natural history of the disease shows that most babies with infantile Pompe disease died before their first birthday from cardiac /respiratory failure. With the introduction of a new enzyme replacement therapy (ERT) the natural history of the disease can now be modified.
The aim of this booklet is to provide reliable, up to date information for parents, their families and professions involved in the care and management of these infants. The complexity of this disorder is still not fully appreciated and research continues to find new treatments and improve outcomes. The information contained in this booklet may not give all the answers to your questions, but it is intended to provide a better understanding of the disease and how to manage it. (Author's introduction) |
Lien associé : | Site Internet AGSD « Association for Glycogen Storage Disease UK » |