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 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.
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Laura Elizabeth Case
Associate Professor in Orthopaedic Surgery
Laura E Case, PT, DPT, MS, PCS, C/NDT is a board-certified clinical specialist in pediatric physical therapy. She has dedicated her career to teaching, research in childhood-onset neuromusculoskeletal disorders, and to the lifelong treatment of people with childhood-onset neurological and neuromuscular disorders such as cerebral palsy, traumatic brain injury, Duchenne muscular dystrophy, spinal muscular atrophy, Pompe disease, myelodysplasia, juvenile rheumatoid arthriti
Lisa Deneen Hobson-Webb
Professor of Neurology
Trained in neuromuscular medicine, my clinical career has focused on the care of patients with genetically mediated neuromuscular disorders, rare peripheral neuropathies, and immune-mediated nerve and muscle disorders and performing high quality electrodiagnostic testing (nerve conduction studies/electromyography). As a researcher, the core aim of my work is applying high resolution ultrasound in the care of patients with neuromuscular diseases. My early work focused on peripheral nerve
Priya Sunil Kishnani
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 with a special focus on Pompe disease, Down syndrome and hypophosphatasia2) ) The development of new therapies such
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