Via practica 5/2011

Pompe disease – new trends in diagnosis and treatment

Pompe disease is a rare autosomal recessive, progressive, debilitating, and often fatal neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase. It is characterized by the accumulation of glycogen in muscle tissue that leads to progressive muscle weakness and loss of function. Presentation in infancy is associated with severe muscle weakness, cardiomyopathy and respiratory failure. Juvenile- and adult-onset typically present with proximal muscle weakness and are associated with exertional dyspnoe or respiratory insufficiency. Determination of α-glucosidase activity in a dried blood spot provides a rapid and reliable diagnostic method for Pompe disease, especially as the initial screening test. Confirmatory testing for Pompe disease should be performed by measuring of α-glucosidase activity in cultures of fibroblasts or muscle tissue, or by DNA testing. There was no treatment for Pompe disease until recently, and infants with Pompe disease usually died within the first year of life. The recent development of recombinant α-glucosidase has dramatically improved the life expectancy and quality of life with improvements of muscle motor and respiratory functions in all forms of Pompe disease. The Pompe Registry established in 2004 represents worldwide data collection on this rare disease, including four Slovak patients. This article focuses on the pathogenesis, presentation, diagnosis and enzyme replacement therapy for Pompe disease.

Keywords: Pompe disease, α-glucosidase deficiency, muscle weakness, diagnosis, enzyme replacement therapy with recombinant α-glucosidase, Pompe Registry