title: The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings.
abstract: OBJECTIVE
  Pompe disease is a neuromuscular disorder that was progressive and fatal prior to enzyme replacement therapy (ERT). The advent of treatment has made early recognition imperative. Electrodiagnostic (EDx) studies represent a valuable diagnostic tool in Pompe disease, but there has been little contemporary data.
  
  
  METHODS
  The records of 29 patients with Pompe disease who had undergone EDx evaluation at Duke University Medical Center from 1999 to 2010 were reviewed.
  
  
  RESULTS
  Seventeen children and twelve adults comprised the group. The clinical characteristics of both groups did not differ from expected. Needle electromyography demonstrated spontaneous activity (SA) in 80% of children and 83% of adults. Myotonic discharges were found in 53% of children and 72% of adults, often isolated to the paraspinal muscles in adults. Eight patients had EDx studies performed after ERT with 3 showing improvement after therapy, despite clinical improvement in 6 of 8.
  
  
  CONCLUSIONS
  EDx studies remain a helpful tool in diagnosing Pompe disease, but do not appear to be sensitive for monitoring response to ERT based upon this limited sample.
  
  
  CONCLUSIONS
  Paraspinal examination is necessary in adults with symptoms suggestive of Pompe disease, as abnormalities may be isolated to this region. Standard EDx studies are not sufficient to monitor early response to ERT and further research on potential biomarkers is needed.
authors.affiliation: Division of Neurology/Department of Medicine, Duke University Medical Center, Durham, NC, USA. lisa.hobsonwebb@duke.edu
authors.forename: Lisa D
authors.initials: LD
authors.lastname: Hobson-Webb
authors.forename: Stephanie
authors.initials: S
authors.lastname: Dearmey
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000008:administration & dosage / Q000627:therapeutic use; D004568:Electrodiagnosis / Q000379:methods*; D004576:Electromyography / Q000379:methods*; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000188:drug therapy* / Q000201:enzymology*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000187:drug effects / Q000201:enzymology* / Q000294:innervation; D020127:Recovery of Function / Q000187:drug effects / Q000502:physiology; D016896:Treatment Outcome
chemical_list: D003402:Creatine Kinase