Journal
NATURE CLINICAL PRACTICE NEUROLOGY
Volume 3, Issue 2, Pages 95-106Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ncpneuro0407
Keywords
Fabry's disease; neuropathic pain; pathophysiology; stroke; X-linked inheritance
Categories
Ask authors/readers for more resources
Fabry's disease is an X-linked lysosomal storage disorder caused by a defect in the gene that encodes the lysosomal enzyme alpha-galactosidase A. Symptoms arise because of accumulation of globotriaosylceramide in multiple organs, resulting in severely reduced quality of life and premature death. Neurological symptoms, such as burning sensations ( occasionally accompanied by acroparesthesia) and stroke, are among the first to appear, and occur in both male and female patients. A delay in establishing the diagnosis of Fabry's disease can cause unnecessary problems, especially now that enzyme replacement treatment is available to prevent irreversible organ damage. Females with Fabry's disease who present with pain have often been ignored and misdiagnosed because of the disorder's X-linked inheritance. This Review will stress the importance of recognizing neurological symptoms for the diagnosis of Fabry's disease. The possible pathophysiological background will also be discussed.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available