What is the prevalence of cerebrotendinous xanthomatosis (CTX) in the US?

Updated: Jun 20, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Maria Descartes, MD  more...
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United States

Given the estimates of incidence, as many as 8,000-14,000 people in the United States may have cerebrotendinous xanthomatosis. These are far more cases than have actually been diagnosed, and experts strongly believe that the condition is seriously underdiagnosed in the United States.

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