Neurology in fabry disease

  • Torvin Møller A
  • Staehelin Jensen T
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Abstract

Neuropathic pain, hypohidrosis, and stroke are prominent neurologic features of Fabry disease. They lead to reduced quality of life, limitations in work and daily activities due to physical impairments, heat intolerance, dizziness, and possible poststroke neuropathic pain. Neuropathic pain manifestations are burning pain in the hands and feet and paresthesia. Future research must focus on objective measures that correlate with disease severity, and data must be produced regarding the efficacy of ERT (enzyme replacement therapy) on symptoms arising from the nervous system. More information is needed regarding the efficacy of ERT on pain, both the chronic pain and pain attacks. In addition, controlled trials to study the efficacy of ERT on stroke are warranted. The general issue of when to start treatment in male and female patients should be discussed, as neuropathic pain is one of the first signs of organ damage. (PsycINFO Database Record (c) 2012 APA, all rights reserved).

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