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Diseases

Genetic and Rare Diseases Information Center (GARD)

Refsum disease


Other Names for this Disease
  • Disorder of cornification 11 (phytanic acid type)
  • Hereditary sensory and motor neuropathy type 4
  • HMSN 4
  • Heredopathia atactica polyneuritiformis
  • Doc 11 (phytanic acid type)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Refsum disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • Disorder of cornification 11 (phytanic acid type)
  • Hereditary sensory and motor neuropathy type 4
  • HMSN 4
  • Heredopathia atactica polyneuritiformis
  • Doc 11 (phytanic acid type)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.