Infantile Refsum Disease Information Page
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What is Infantile Refsum Disease?
Is there any treatment?
What is the prognosis?
What is Infantile Refsum Disease?
Infantile Refsum disease is a disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the body and by the accumulation of phytanic acid in blood plasma and tissue. Infantile 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. Symptoms may include visual impairments including retinitis pigmentosa and nystagmus (rapid, involuntary jerky eye movements), hearing impairments, hypotonia (decreased muscle tone), failure to thrive, developmental delay, ataxia (impaired muscle coordination), hepatomegaly (enlargement of the liver), hypocholesterolemia (an abnormally diminished amount of cholesterol in the blood), and mild facial dysmorphism (abnormalities in the form and structure of the face). Onset of the disorder begins in early infancy.
Is there any treatment?
There is no cure or standard course of treatment for infantile Refsum disease. Treatment is symptomatic and supportive.
What is the prognosis?
The prognosis for individuals with infantile Refsum disease is poor. Death usually occurs in the second decade of life.
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