Refsum Disease: A Patient's Perspective: A Clinical Perspective
What is Refsum Disease?
Refsum disease is one of a family of genetic disorders known as the leukodystrophies in which, as a consequence of the disruption of lipid metabolism, the myelin sheath that insulates and protects the nerves of the brain fails to grow. It is inherited as an autosomal recessive trait.
As more information for our “Patient Perspective” section of Refsum Disease becomes available, we will provide updates. Please refer to a Clinician’s Perspective for Refsum Syndrome.
Download a PDF version of this information
- Learn more about Refsum disease by visiting the Global DARE Foundation at this link - Defeat Adult Refsum Everywhere foundation
| Other Names: | heredopathia atactica polyneuritoformis; phytanic acid storage disease |
| OMIM: | 266500 |
| Inheritance: | autosomal recessive |
| Incidence: | very rare |
| Key Findings: |
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| Associated Findings: |
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| Age at First Appearance: | neurologic findings usually detected during the first or second decade; skin findings usually later |
| Longterm Course: | onset is insidious; neurologic changes progressive but vary with diet; reduced life-expectancy |
| Diagnostic Tests: | biochemical measurements on blood or skin cells; analysis of cellular DNA |
| Abnormal Gene: | phytanyl CoA hydroxylase |
Additional Resources:
- Clinicians seeking to confirm a diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis. »
- Learn more about FIRST's Support Services - connecting affected individuals and families with each other. Or call the FIRST office at 800-545-3286. »
- Information about current clinical trials and research studies can be found here.
- Learn more about Refsum disease by visiting the Defeat Adult Refsum Everywhere foundation
