Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.
| dc.contributor.author | Hobson-Webb, Lisa D | |
| dc.contributor.author | Austin, Stephanie L | |
| dc.contributor.author | Jain, Sneha | |
| dc.contributor.author | Case, Laura E | |
| dc.contributor.author | Greene, Karla | |
| dc.contributor.author | Kishnani, Priya S | |
| dc.coverage.spatial | United States | |
| dc.date.accessioned | 2017-08-28T16:25:01Z | |
| dc.date.available | 2017-08-28T16:25:01Z | |
| dc.date.issued | 2015-04-03 | |
| dc.description.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. | |
| dc.identifier | ||
| dc.identifier | 893309 | |
| dc.identifier.eissn | 1941-5923 | |
| dc.identifier.uri | ||
| dc.language | eng | |
| dc.publisher | International Scientific Information, Inc. | |
| dc.relation.ispartof | Am J Case Rep | |
| dc.relation.isversionof | 10.12659/AJCR.893309 | |
| dc.subject | Age Factors | |
| dc.subject | Child | |
| dc.subject | Cohort Studies | |
| dc.subject | Erythromelalgia | |
| dc.subject | Female | |
| dc.subject | Glycogen Storage Disease Type II | |
| dc.subject | Humans | |
| dc.subject | Male | |
| dc.subject | Middle Aged | |
| dc.subject | Risk Factors | |
| dc.subject | Sex Factors | |
| dc.subject | Surveys and Questionnaires | |
| dc.subject | Vital Capacity | |
| dc.title | Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort. | |
| dc.type | Journal article | |
| duke.contributor.orcid | Case, Laura E|0000-0002-2941-2186 | |
| duke.contributor.orcid | Kishnani, Priya S|0000-0001-8251-909X | |
| pubs.author-url | ||
| pubs.begin-page | 196 | |
| pubs.end-page | 201 | |
| pubs.organisational-group | Clinical Science Departments | |
| pubs.organisational-group | Duke | |
| pubs.organisational-group | Duke Clinical Research Institute | |
| pubs.organisational-group | Institutes and Centers | |
| pubs.organisational-group | Neurology | |
| pubs.organisational-group | Neurology, Neuromuscular Disease | |
| pubs.organisational-group | Orthopaedics | |
| pubs.organisational-group | Orthopaedics, Physical Therapy | |
| pubs.organisational-group | Pediatrics | |
| pubs.organisational-group | Pediatrics, Medical Genetics | |
| pubs.organisational-group | School of Medicine | |
| pubs.publication-status | Published online | |
| pubs.volume | 16 |
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