Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients.

ABSTRACT:

Background

Enzyme replacement therapy (ERT; alglucosidase alfa) has improved the prospects for patients with classic infantile Pompe disease considerably. However, over time we noticed that many of these children exhibit distal muscle weakness at an early age, which is in contrast to the primarily proximal and axial muscle weakness in patients with late-onset Pompe disease. This was reason to study the prevalence and severity of distal muscle weakness, and the sequence of muscle involvement over time in patients that had learned to walk under ERT.

Methods

In this prospective, single-center cohort study, we studied 16 classic infantile patients. We used video recordings that were made during regular standardized assessments to investigate distal muscle function (active dorsif

SUBMITTER: van den Dorpel JJA 

PROVIDER: S-EPMC7488760 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature