Pompe disease: A neuromuscular disease with respiratory muscle involvement

Abstract

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.

Headache: A Presentation of Pompe Disease; A Case Report

“…According to literatures, more than five year delay in diagnosis has been accounted for more than half of the cases of LOPD [6]. The main causes of late diagnosis are broad spectrum phenotypes of disease and its low prevalence.…”

“…The muscles may seem hypertrophied in spite of significant weakness [5]. The prevalence of Pompe disease has been estimated between 1 in 40,000 to 1 in 600,000 [6].…”

“…Because of low prevalence and a wide range of clinical symptoms, many cases go unrecognized. It should be differentiated from muscular dystrophies and other causes of chronic muscle weakness [6,12].…”

Late-Onset Pompe Disease With Left-Sided Bronchomalacia

“…Regardless of the timing of onset, enzyme replacement therapy with recombinant human acid ␣-glucosidase is recommended. 1 The upper airway, inspiratory muscles, and diaphragm are frequently affected in late-onset Pompe disease, 1 whereas, to the best of our knowledge, lower airway involvement has not been reported. Here, we present a unique case of late-onset Pompe disease with obvious left main bronchial malacia that was diagnosed and subsequently managed with stent implantation by flexible bronchoscopy.…”

“…1,2 This accumulation results in cell damage and has various clinical manifestations depending on the timing of onset. The most severe form of Pompe disease is infantile-onset Pompe disease, which becomes apparent within the first 2 months of life and is characterized by cardiac hypertrophy, hypotonia, respiratory distress, and delayed motor development.…”