Is late-onset Pompe disease prevalent in unclassified limb-girdle muscular dystrophies?
Our findings indicate that a DBS should be considered early in the diagnostic work-up of patients with an LGMD phenotype, to rule out Pompe disease. Retrospectively, all 3 patients presented with "red flags" more compatible with Pompe disease than LGMD, including; 1) mild non-dystrophic, myopathic features on muscle biopsy, 2) creatine kinase levels below 1000, and 3) disproportionate axial and respiratory muscle involvement in comparison with limb muscle involvement.
If obstruction is resolved, bladder wall thickness decreases. Preoperatively elevated residual urine may increase the risk of persistent obstruction after urethrolysis.