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Articles » NINDS Refsum Disease Information Page: NINDS

NINDS Refsum Disease Information Page: NINDS

Article title: NINDS Refsum Disease Information Page: NINDS

Main condition: Refsum Disease

Conditions: Refsum Disease

What is Refsum Disease?
Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty coveringówhich acts as an insulatoróon nerve fibers in the brain. Refsum disease is characterized by the abnormal accumulation of phytanic acid in blood plasma and tissues. (Phytanic acid is not made in the human body; it comes from the dietódairy products, beef, lamb, and some seafood). Symptoms of the disorder may include vision impairments (retinitis pigmentosa), peripheral neuropathy, ataxia (impaired muscle coordination), impaired hearing, and bone and skin changes. Nystagmus (rapid, involuntary to-and-fro eye movements), anosmia (absence of the sense of smell), and ichthyosis (a skin disorder causing dry, rough, scaly skin) may also occur. Onset of Refsum disease varies from early childhood to age 50, however, symptoms usually appear by age 20. The disorder affects both males and females.

Is there any treatment?
Treatment for Refsum disease includes restricting foods that contain phytanic acid. Plasmapheresis (the removal and reinfusion of blood plasma) may also be required.

What is the prognosis?
The prognosis for individuals with Refsum disease varies. With treatment, symptoms of peripheral neuropathy and ichthyosis generally disappear. However, treatment cannot undo the damage to vision and hearing.

What research is being done?
The NINDS supports research on genetic disorders including leukodystrophies such as Refsum disease. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them.

Selected references

Berkow, R (ed).
The Merck Manual of Diagnosis and Therapy: General Medicine vol. I, 16th edition, Merck & Co., Inc., Rahway, NJ, p. 907 (1992)

Bradley, W, et al (eds).
Neurology in Clinical Practice: The Neurological Disorders vol. II, 2nd edition, Butterworth-Heinemann, Boston, pp. 1910-1911 (1996)

Magalini, S, et al (eds).
Dictionary of Medical Syndromes 4th edition, J.B. Lippincott Co., Philadelphia, p. 685 (1997)

Rowland, L (ed).
Merritt's Textbook of Neurology 9th edition, Williams & Wilkins, Baltimore, pp. 556-557, 580-581 (1995)


National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA 02135
Tel: 617-277-4463 800-90-NTSAD (906-8723)
Fax: 617-277-0134

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892


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