Refsum Disease Information Page
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What is Refsum Disease?
Is there any treatment?
What is the prognosis?
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?
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 usually disappear. However, treatment can not undo the damage to vision and hearing.
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