Cerebrotendinous xanthomatosis (CTX) symptoms

Because CTX is rare, figuring out if symptoms are caused by this uncommon condition is not always easy. It can seem overwhelming because the effect of CTX can vary from person to person by types of symptoms, combination of symptoms, severity of symptoms, and the age at which symptoms start. Knowing what to look out for—and when—is the first step to uncovering if you or your loved one has CTX.

the five main symptoms of CTX Click to enlarge
the five main symptoms of CTX

What to keep in mind

  • In CTX, cholestanol builds up in the eyes, tendons (ie, tissues that connect muscle to the bone), brain, and other tissues over time, and can cause a number of different problems.
  • Because it can take years for the buildup to cause problems, symptoms may vary and show up at different times in a person’s life.
  • More than 1 symptom may happen at the same time, but not all symptoms of CTX may happen in an affected person.

Once CTX is identified, doctors can take the right action to manage it. If left untreated and unmanaged, CTX can worsen and cause irreversible damage to the brain.

Understanding how symptoms of CTX show up, and when, is the first step to diagnosis.