How to confirm whether it is CTX
It is crucial to recognize the symptoms of CTX since early diagnosis and treatment can help prevent the disease from progressing.
Chronic diarrhea, combined with bilateral cataracts in a child or adolescent, should raise suspicion.1 If you notice these symptoms or any signs of neurological problems, such as poor muscle coordination, abnormal reflexes, or intellectual decline, seek advice of a healthcare professional.
CTX is diagnosed using the following methods:2
- Blood test for plasma cholestanol levels
- Urine and blood test (plasma) for bile alcohol glucuronides
- Gene tests
Practices differ from country to country. Please consult your local health care provider if you have concerns.