Severe distal muscle involvement and mild sensory neuropathy in a boy with infantile onset Pompe disease treated with enzyme replacement therapy for 6 years

Infantile onset Pompe disease (IOPD) is caused by virtually complete deficiency of the lysosomal enzyme acid alpha glucosidase (GAA) and abnormal storage of glycogen, leading to hypertrophic cardiomyopathy (HCM), a myopathy with profound axial muscle weakness, and early death usually within the first year of life before enzyme replacement therapy (ERT) became available. ERT with recombinant human GAA has enabled long-term survival and achievement of motor milestones such as free walking for some of the affected.

Source: Neuromuscular Disorders - March 13, 2019 Category: Neurology Authors: Anne Sch änzer, Jonas Görlach, Kerstin Claudi, Andreas Hahn Tags: Case report Source Type: research