CTX Disease - HCP overview

For US HCPs Only

CTX is a rare and underdiagnosed genetic disorder

For many people with CTX, diarrhea is the earliest symptom.

Idiopathic bilateral cataracts could be a sign of cerebrotendinous xanthomatosis (CTX).

Not an actual patient.

Patients with tendon xanthomas and normal serum triglycerides and cholesterolmay have CTX.

Without early diagnosis and the right care, CTX can cause serious intellectual disability.

Neonatal cholestasis might be the earliest sign of CTX.

Learn how a vigilant pediatric ophthalmologist identified a case of CTX in a 9-year-old child.

References: 1. Lorincz MT, et al. Arch Neurol. 2005;62:1459-1463. 2. Gallus GN, et al. Neurol Sci. 2006;27:143-149. 3. Moghadasian MH. Clin Invest Med. 2004;27:42-50. 4. Verrips A, et al. Brain. 2000;123:908-919. 5. Dotti MT, et al. J Inherit Metab Dis. 2001;24:696-706. 6. Smithard A, et al. Skeletal Radiol. 2007;36:171-175. 7. Mignarri A, et al. J Inherit Metab Dis. 2014;37:421-429.

For Patients and Caregivers About CTX Clinical Presentation Diagnosis Case Reports Resources

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