Pyridostigmine is an acetylcholinesterase inhibitor, which degrades acetylcholine at the
neuromuscular junction. Based on recent studies, pyridostigmine may be an effective adjuvant
treatment for people with Pompe disease, as it increases the functional impact of this
neurotransmitter.
Hypothesis: the use of pyridostigmine in Pompe disease will improve transmission of
acetylcholine across the neuromuscular junction, skeletal muscle function, respiratory
function, and quality of life.