Providing education, support, advocacy, and promoting research
for CTX patients, their families, and medical professionals
who treat and study this rare disease.
The onset of symptoms, specific symptoms, and progression of CTX varies greatly from one individual to another, even for twins with the same abnormality in the CYP27A1 gene (GeneReviews article).
Some children affected with CTX experience cholestatic jaundice during infancy. Affected individuals can experience diarrhea and cataracts in childhood and may develop xanthomas of the tendons during adolescence. Not every individual with CTX develops all of these signs and symptoms and the age at which they appear varies. Patients with CTX often experience a delay in diagnosis after the onset of first symptoms. If untreated, CTX can lead to progressive neurologic problems such as seizures, cognitive impairment, and difficulties with coordination and balance.
