Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.

Published online

Journal Article

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. CASE REPORT: 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.

Full Text

Duke Authors

Cited Authors

  • Hobson-Webb, LD; Austin, SL; Jain, S; Case, LE; Greene, K; Kishnani, PS

Published Date

  • April 3, 2015

Published In

Volume / Issue

  • 16 /

Start / End Page

  • 196 - 201

PubMed ID

  • 25835646

Pubmed Central ID

  • 25835646

Electronic International Standard Serial Number (EISSN)

  • 1941-5923

Digital Object Identifier (DOI)

  • 10.12659/AJCR.893309


  • eng

Conference Location

  • United States