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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
generally occurs in the second decade of life.
What research is being done?
The NINDS supports research on genetic disorders including leukodystrophies such
as infantile 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.
Organizations
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291
Source: National Institutes of Health; The
National Institute of Neurological Disorders and Stroke
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