title: Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.
abstract: BACKGROUND
  Prior autopsy reports demonstrate glycogen deposition in Schwann cells of the peripheral nerves in patients with infantile and late-onset Pompe disease (LOPD), but little is known about associated clinical features.
  
  
  METHODS
  Here, we report the first confirmed cases of small-fiber neuropathy (SFN) in LOPD and present the results of a first attempt at screening for SFN in this patient population. After confirming small-fiber neuropathy in 2 LOPD patients, 44 consecutive Pompe patients (iOPD=7, LOPD n=37) presenting to the Duke University Glycogen Storage Disease Program between September 2013 and November 2014 were asked to complete the 21-item Small-Fiber Neuropathy Screening List (SFNSL), where a score of ≥11 is considered to be a positive screen. Fifty percent of patients had a positive SFN screen (mean score 11.6, 95% CI 9.0-14.2). A modest correlation between the SFNSL score and current age was seen (r=0.38, p=0.01), along with a correlation with duration of ERT (r=0.31, p=0.0495). Trends toward correlation with forced vital capacity and age at diagnosis were also present. Women had a higher mean SFNSL score (14.2) than men (8.2, p=0.017).
  
  
  CONCLUSIONS
  SFN may occur in association with Pompe disease and precede the diagnosis. Further studies are needed to determine its true prevalence and impact.
authors.affiliation: Department of Neurology, Division of Neuromuscular Medicine, Duke University Medical Center, Durham, NC, USA.
authors.forename: Lisa D
authors.initials: LD
authors.lastname: Hobson-Webb
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Stephanie L
authors.initials: SL
authors.lastname: Austin
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Sneha
authors.initials: S
authors.lastname: Jain
authors.affiliation: Department of Community and Family Medicine, Division of Physical Therapy, Duke University School of Medicine, Durham, NC, USA.
authors.forename: Laura E
authors.initials: LE
authors.lastname: Case
authors.affiliation: Department of Physical and Occupational Therapy, Duke University Medical Center, Durham, NC, USA.
authors.forename: Karla
authors.initials: K
authors.lastname: Greene
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
mesh_terms: D000367:Age Factors; D002648:Child; D015331:Cohort Studies; D004916:Erythromelalgia / Q000175:diagnosis* / Q000209:etiology*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012307:Risk Factors; D012737:Sex Factors; D011795:Surveys and Questionnaires; D014797:Vital Capacity
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