Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.
Repository Usage Stats
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.
Glycogen Storage Disease Type II
Surveys and Questionnaires
Published Version (Please cite this version)10.12659/AJCR.893309
Publication InfoHobson-Webb, Lisa D; Austin, Stephanie L; Jain, Sneha; Case, Laura E; Greene, Karla; & Kishnani, Priya S (2015). Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort. Am J Case Rep, 16. pp. 196-201. 10.12659/AJCR.893309. Retrieved from https://hdl.handle.net/10161/15380.
This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.
More InfoShow full item record
Associate Professor in Orthopaedic Surgery
Associate Professor of Neurology
Chen Family Distinguished Professor of Pediatrics
RESEARCH INTERESTS A multidisciplinary approach to care of individuals with genetic disorders in conjunction with clinical and bench research that contributes to: 1) An understanding of the natural history and delineation of long term complications of genetic disorders with a special focus on liver Glycogen storage disorders, lysosomal disorders witha special focus on Pompe disease, Down syndrome and hypophosphatasia2) The development of new therapies for genetic d
Alphabetical list of authors with Scholars@Duke profiles.