Refsum Disease
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What is Refsum Disease?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
What is Refsum Disease?
Adult Refsum disease (ARD) is one of a group of genetic diseases called leukodystrophies, which damage the white matter of the brain and affect motor movements. Due to a genetic abnormality, people with ARD disease
lack the enzyme that breaks down phytanic acid, a substance commonly found in foods. As a result, toxic levels of phytanic
acid build up in the brain, blood, and other tissues. The disease usually begins in late childhood with increasing night
blindness due to degeneration of the retina (retinitis pigmentosa) and loss of the sense of smell (anosmia). If the disease
progresses, other symptoms may include deafness, problems with balance and coordination (ataxia), weakness or numbness (peripheral
neuropathy), dry and scaly skin (ichthyosis), and heartbeat abnormalities (cardiac arrhythmias). Some individuals will have
shortened bones in their fingers or toes, or a visibly shortened fourth toe. Although the disease usually appears in early
childhood, some people will not develop symptoms until their 40s or 50s.
Is there any treatment?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 office@ulf.org http://www.ulf.org Tel: 815-895-3211 800-728-5483 Fax: 815-895-2432 |
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Last updated February 14, 2007