Cerebrotendinous Xanthomatosis (CTX) is a rare inherited disorder caused by a deficiency of an enzyme called sterol 27-hydroxylase. This enzyme is responsible for breaking down a type of cholesterol called cholestanol. When the enzyme is deficient, cholestanol builds up in the body and can cause a variety of symptoms, including tendon xanthomas (yellowish lumps under the skin), cataracts, neurological problems, and psychiatric issues. Treatment for CTX involves taking a medication called chenodeoxycholic acid, which helps to break down the cholestanol and reduce symptoms.

The symptoms of Cerebrotendinous Xanthomatosis (CTX) vary depending on the age of onset, but generally include:

-Developmental delay

-Intellectual disability

-Seizures

-Movement disorders

-Cataracts

-Diabetes

-High cholesterol

-Tendon xanthomas (yellowish bumps on the tendons)

-Cognitive impairment

-Behavioral problems

-Depression

-Anxiety

-Fatigue

-Muscle weakness

-Joint pain

-Growth retardation

-Abnormal gait

-Hearing loss

-Vision problems

Cerebrotendinous Xanthomatosis (CTX) is caused by a genetic mutation in the CYP27A1 gene, which is responsible for producing an enzyme called sterol 27-hydroxylase. This enzyme is responsible for breaking down cholesterol and other fatty substances in the body. When the CYP27A1 gene is mutated, the body is unable to produce enough of this enzyme, leading to a buildup of cholesterol and other fatty substances in the body, which can cause a variety of symptoms, including CTX.

The primary treatment for Cerebrotendinous Xanthomatosis (CTX) is a lifelong regimen of oral supplementation with chenodeoxycholic acid (CDCA). This helps to reduce the levels of cholesterol and other lipids in the body, and can help to reduce the symptoms of CTX. Other treatments may include dietary changes, physical therapy, and medications to help manage symptoms such as seizures, muscle weakness, and cognitive impairment. In some cases, surgery may be necessary to remove the xanthomas (fatty deposits) that can form in the body.

1. Autosomal recessive inheritance: CTX is an autosomal recessive disorder, meaning that both parents must carry the mutated gene in order for a child to be affected.

2. Ethnicity: CTX is more common in certain ethnic groups, including Ashkenazi Jews, North African Arabs, and Iranian Jews.

3. Age: CTX typically presents in childhood or adolescence, although it can present in adulthood.

4. Gender: CTX is more common in males than females.

Yes, there is a cure for Cerebrotendinous Xanthomatosis (CTX). The only available treatment is a lifelong oral medication called chenodeoxycholic acid (CDCA). This medication helps to reduce the levels of cholesterol and other fatty substances in the body, which can help to reduce the symptoms of CTX. In some cases, surgery may be necessary to remove the xanthomas (fatty deposits) that have formed in the body.