Osmosis video - Cerebrotendinous xanthomatosis (NORD)

Cerebrotendinous xanthomatosis (CTX) is a rare genetic lipid storage disease that is characterized by abnormally high cholestanol levels in the blood. It causes cholesterol to accumulate in the brain, tendons, eyes, arteries, and other organs, causing health problems. Symptoms of CTX depend on affected organs, but usually include progressive neurologic deterioration, seizures, intellectual disability, decreased muscle strength, joint pain and swelling (arthritis), yellowing of the skin and whites of the eyes (xanthomas), and cataracts.