Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.
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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
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Published Version (Please cite this version)10.12659/AJCR.893309
Publication InfoHobson-Webb, Lisa Deneen; Austin, Stephanie; Jain, S; Case, Laura Elizabeth; Greene, Karla; & Kishnani, Priya Sunil (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 http://hdl.handle.net/10161/15380.
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Associate Professor of Orthopaedic Surgery
Associate Professor of Neurology
Chen Family 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 2) The development of new therapies for genetic disorders through translational research 3) The development and execution of large multicenter trials to confirm safety and efficacy of potential th
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