Xanthomatosis cerebrotendinous: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed. More detailed information about the symptoms, causes, and treatments of Xanthomatosis cerebrotendinous is available below.
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Prognosis for Xanthomatosis cerebrotendinous: The severity of the condition is very variable with some patients dying prematurely (during the 40's to 60's) if it is untreated. Death can occur as early as infancy in rare cases. Treatment can reduce the risk of complications and improve life spans. Early treatment can ensure a normal life expectancy.
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The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.
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Xanthomatosis cerebrotendinous is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Xanthomatosis cerebrotendinous, or a subtype of Xanthomatosis cerebrotendinous,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Xanthomatosis cerebrotendinous as a "rare disease".
Source - Orphanet
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