Road to diagnosis

With early diagnosis and the right care, people with cerebrotendinous xanthomatosis (CTX) can avoid serious disability

Early diagnosis is the most important way to help people with CTX. With a confirmed diagnosis, doctors can take the necessary steps to prevent additional damage. However, know they cannot always reverse damage that has already happened—especially neurologic damage.

Currently, the average age of diagnosis is about 35. By this time, neurologic problems are often severe, disabling, and often permanent. However, if people with CTX are diagnosed early, many can avoid serious disability.

Getting to the right diagnosis can be difficult

CTX is rare, but there are probably many people with CTX who do not know they have it. There are several reasons for this.

• Most doctors have never seen a case of CTX. Only around 425 cases of CTX have been identified and published. Most doctors will not have seen a patient with CTX.
• CTX varies from person to person. Although most people with CTX will have several of the key signs and symptoms of CTX, they are more severe in some people than in others. Not all people with CTX will experience the same signs and symptoms.
• Most people with CTX see several different specialists. Because CTX affects different parts of the body, several different doctors may be involved. Doctors and patients may not mention a symptom that seems unrelated to their current problem. For example, people usually don’t think of telling their eye doctor about symptoms of diarrhea.