Authors: U.A. Khan
Affilation: University of Manchester, United Kingdom
Pages: 468 - 471
Keywords: pompe disease, cardiomyopathy, enzyme
Pompe disease in an autosomal recessive inherited condition characterised by deficiency of the enzyme acid -glucosidase. This causes accumulation of glycogen in muscles, significantly in the heart. The affect is a progressive muscle dysfunction, leading to profound generalised weakness and hypertrophic cardiomyopathy. The disease presents in two forms, one characterised by an early onset in the first few months of life and the other with a range of onset from after the age of one. Recent trials of enzyme replacement therapy have shown some promising results that could help people with the disease, however some have not responded to the treatment. Physical therapy is another method of treatment applied to help enhance movement and delay the associated weakness. However this type of therapy could be contra indicatory when compared to the pathology of the disease. This report reviews current knowledge regarding the pathology behind Pompe disease and how treatment options work with this, to conclude if they really are beneficial, if so, to what extent can they be of benefit.