Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy.

ABSTRACT:

Background

Late-onset Pompe disease (LOPD) is a metabolic myopathy caused by mutations in GAA and characterized by proximal muscle weakness and respiratory insufficiency. There is evidence from clinical studies that enzyme replacement therapy (ERT) with human recombinant alpha-glucosidase improves motor performance and respiratory function in LOPD.

Objective

We analyzed quantitative muscle MRI data of lower limbs to evaluate the effects of long-term ERT on muscle parameters.

Methods

Three symptomatic LOPD patients who received ERT for five years and four untreated presymptomatic LOPD patients were included in the study. T1-weighted MRI images were used to determine volumes of thigh and lower leg muscles. In addition, mean gray values of eight individual thigh muscles

SUBMITTER: Gruhn KM 

PROVIDER: S-EPMC4750633 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature