Pompe disease: a neuromuscular disease with respiratory muscle involvement

Pompe disease is a single disease continuum that includes variable neuromuscular symptoms and rates of progression. However, specific clinical features, such as an early onset of respiratory problems preceding limb muscular weakness, distinguish Pompe disease from other neuromuscular diseases in which respiratory insufficiency occurs after loss of ambulation. The management of Pompe disease also differs from other neuromuscular diseases in that specific treatment is now available, making early recognition of the disease a priority. The results from clinical trials with recombinant human acid alpha-glucosidase have been published, and they show promising results with regards to the improvement of respiratory function in patients with Pompe disease. This review aims to give an overview of Pompe disease and to describe the current concepts of the disease. A focus is placed on the pathophysiology and clinical presentation of respiratory muscle involvement in adults. Additionally, new approaches and therapies available for the management of respiratory complications observed in Pompe disease are discussed in detail.