Cover Journal of the American Podiatric Medical Association
Journal of the American Podiatric Medical Association
ISSN:
8750-7315
Online Publication Date:
Aug 1998

Refsum's disease. A unique case

DF Jaffe Phoenix Veterans Affairs Medical Center, AZ, USA.

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KS Crezee Phoenix Veterans Affairs Medical Center, AZ, USA.

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S Mason Phoenix Veterans Affairs Medical Center, AZ, USA.

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T Leavens-Chiarelli Phoenix Veterans Affairs Medical Center, AZ, USA.

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W Lawrence Phoenix Veterans Affairs Medical Center, AZ, USA.

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DOI:
https://doi.org/10.7547/87507315-88-8-406
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Refsum's disease, or heredopathia atactica polyneuritiformis, is a peroxisomal disorder leading to the accumulation of phytanic acid throughout the body. It affects sensory and motor neurons and the skeletal system. Peripheral neuropathy, ataxia, blindness, deafness, and skeletal hyperostosis are significant findings used in the diagnosis of the disease.

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