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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.

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Other Names: heredopathia atactica polyneuritoformis; phytanic acid storage disease
OMIM: 266500
Inheritance: autosomal recessive
Incidence: very rare
Key Findings:
  • neurologic findings usually precede skin findings
  • skin: generalized, flat, dark scales of varying severity and extent
Associated Findings:
  • neurologic: cerebellar ataxia, peripheral neuropathy
  • eyes: progressive visual loss
  • ears: progressive hearing loss
  • heart: arrhythmias
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

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This information is provided as a service to patients and parents of patients who have ichthyosis. It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents. Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here. All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.

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