Definition:
Refsum disease is a group of genetic disorders called leukodystrophies where the white matter of the brain is damaged, affecting motor movements. Refsum disease usually begins in childhood or adolescence and progresses through time.
Diagnosis:
A complete medical history is taken to see if any one in the family also suffers form this Refsum disease. Further tests may also be taken to check the genes particularly chromosome 10 and chromosome 6.
Treatment:
Restriction or avoidance of food containing phytanic acid, like dairy, beef and lamb, fatty fish such as tuna or cod is the primary treatment for this disorder. Major cases may require some patients to undergo plasmapheresis or plasma exchange to control the phytanic acid build up.
Symptoms and Signs:
Neurological damage is usually present in patients with refsum's disease. Other disorders related to this disorder are: cerebral degeneration and periphiral neuropathy. Symptoms include: night blindness, ataxia, scaly skin (ichthyosis), hearing distortions, as well as eye abnormalities such as cataracts.
Causes:
Due to a genetic abnormality, people with ARD disease lack the enzyme that breaks down phytanic acid, which is a substance commonly found in foods. As a consequence, phytanic acid build ups in the brain, blood, and other tissues at toxic levels.
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