title: Peripheral neuropathy in glycogen storage disease type III: Fact or myth?
abstract: BACKGROUND
  The aim of this study was to assess whether peripheral neuropathy is a feature of glycogen storage disease type IIIa (GSD IIIa) in adult patients.
  
  
  METHODS
  Medical records of a cohort of adult GSD IIIa patients who underwent electromyography (EMG) and nerve conduction studies (NCS) were reviewed, and the results were correlated with physical examination findings.
  
  
  RESULTS
  Sixteen patients underwent EMG and NCS; 4 complained of exercise intolerance, 1 of foot paresthesia, and 11 of muscle weakness (3 proximal, 8 distal). None of the patients had sensory deficits on clinical examination. All motor and sensory conduction velocities and sensory amplitudes were within reference ranges. EMG showed myopathic motor unit potentials in 15 of the 16 patients.
  
  
  CONCLUSIONS
  Based on the clinical examination and the NCS and EMG results, we did not identify any peripheral nerve involvement in our adult patients diagnosed with GSD III.
authors.affiliation: AP-HP, G-H Pitié-Salpêtrière, Institut de Myologie, centre de référence des maladies neuromusculaires Paris Est, 75013, Paris, France.
authors.forename: Bastien
authors.initials: B
authors.lastname: Herlin
authors.affiliation: AP-HP, G-H Pitié-Salpêtrière, Institut de Myologie, centre de référence des maladies neuromusculaires Paris Est, 75013, Paris, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Laforět
authors.affiliation: AP-HP, Hôpitaux Universitaires Paris-Sud - Hôpital Antoine Béclère, Centre de Référence des maladies héréditaires du métabolisme hépatique, service de Pédiatrie, Clamart, and Université Paris Sud, UFR Le Kremlin-Bicêtre, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Labrune
authors.affiliation: AP-HP, G-H Pitié-Salpêtrière, Département de Neurophysiologie, Paris, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Fournier
authors.affiliation: AP-HP, G-H Pitié-Salpêtrière, Institut de Myologie, centre de référence des maladies neuromusculaires Paris Est, 75013, Paris, France.
authors.forename: Tanya
authors.initials: T
authors.lastname: Stojkovic
mesh_terms: D000200:Action Potentials / Q000502:physiology; D000293:Adolescent; D000328:Adult; D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D005260:Female; D006010:Glycogen Storage Disease Type III / Q000097:blood / Q000150:complications*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology; D010525:Peripheral Nerves / Q000503:physiopathology; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000209:etiology* / Q000473:pathology; D055815:Young Adult
chemical_list: D003402:Creatine Kinase
keywords: electromyography; glycogen storage disease; myopathy; nerve conduction study; peripheral neuropathy