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. 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.
Type
Journal articleSubject
Age FactorsChild
Cohort Studies
Erythromelalgia
Female
Glycogen Storage Disease Type II
Humans
Male
Middle Aged
Risk Factors
Sex Factors
Surveys and Questionnaires
Vital Capacity
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https://hdl.handle.net/10161/15380Published Version (Please cite this version)
10.12659/AJCR.893309Publication Info
Hobson-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.
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Show full item recordScholars@Duke
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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