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Small fiber neuropathy in female patients with fabry disease

✍ Scribed by Rocco Liguori; Vitantonio Di Stasi; Enrico Bugiardini; Renzo Mignani; Alessandro Burlina; Walter Borsini; Agostino Baruzzi; Pasquale Montagna; Vincenzo Donadio

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 348 KB
Volume: 41
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.21606

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Recent studies suggest that heterozygous female Fabry disease (FD) patients develop peripheral neuropathy. We used skin biopsy to define somatic and autonomic peripheral nerve characteristics in 21 females with FD who were mainly asymptomatic and had normal renal function. Somatic epidermal and dermal autonomic nerve fiber reductions were found, prevalently in the leg, and no differences were found between symptomatic and asymptomatic individuals. Our findings suggest that females with FD, although asymptomatic, may have somatic and autonomic small fiber neuropathy. Muscle Nerve, 2010

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