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Refsum Disease Synonym(s): Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Studies with patients Table of Contents (click to jump to sections) What is Refsum Disease?Is there any treatment? What is the prognosis? What research is being done? Organizations 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 covering—which acts as an insulator—on 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 diet—dairy 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? What is the prognosis? What research is being done? National Organization for Rare Disorders (NORD)
National Tay-Sachs and Allied Diseases Association
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