Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients.
Jan J A van den DorpelE PoelmanL HarlaarH A van KootenL J van der GiessenP A van DoornA T van der PloegJ M P van den HoutN A M E van der BeekPublished in: Orphanet journal of rare diseases (2020)
We found that the majority (14/16, 88%) of patients who had learned to walk exhibited distal muscle weakness of the lower extremities, while a subset (5/16, 31%) also developed weakness of the hands. The distal muscle weakness was often more serious than, and preceded the development of, the proximal muscle weakness.