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What is Xanthomatosis cerebrotendinous?

What is Xanthomatosis cerebrotendinous?

  • Xanthomatosis cerebrotendinous: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.

Xanthomatosis cerebrotendinous is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Xanthomatosis cerebrotendinous, or a subtype of Xanthomatosis cerebrotendinous, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Xanthomatosis cerebrotendinous as a "rare disease".
Source - Orphanet

Xanthomatosis cerebrotendinous: Introduction

Types of Xanthomatosis cerebrotendinous:

Broader types of Xanthomatosis cerebrotendinous:

Who gets Xanthomatosis cerebrotendinous?

Racial predominance for Xanthomatosis cerebrotendinous: Moroccan Jews

How serious is Xanthomatosis cerebrotendinous?

Prognosis of Xanthomatosis cerebrotendinous: The severity of the condition is very variable with some patients dying prematurely (during the 40's to 60's) if it is untreated. Death can occur as early as infancy in rare cases. Treatment can reduce the risk of complications and improve life spans. Early treatment can ensure a normal life expectancy.
Complications of Xanthomatosis cerebrotendinous: see complications of Xanthomatosis cerebrotendinous

What causes Xanthomatosis cerebrotendinous?

Causes of Xanthomatosis cerebrotendinous: see causes of Xanthomatosis cerebrotendinous

What are the symptoms of Xanthomatosis cerebrotendinous?

Symptoms of Xanthomatosis cerebrotendinous: see symptoms of Xanthomatosis cerebrotendinous

Complications of Xanthomatosis cerebrotendinous: see complications of Xanthomatosis cerebrotendinous

Onset of Xanthomatosis cerebrotendinous: Symptoms can develop at any age from infancy.

Can anyone else get Xanthomatosis cerebrotendinous?

Inheritance: see inheritance of Xanthomatosis cerebrotendinous

Xanthomatosis cerebrotendinous: Testing

Diagnostic testing: see tests for Xanthomatosis cerebrotendinous.

Misdiagnosis: see misdiagnosis and Xanthomatosis cerebrotendinous.

How is it treated?

Doctors and Medical Specialists for Xanthomatosis cerebrotendinous: Medical Geneticist ; see also doctors and medical specialists for Xanthomatosis cerebrotendinous.
Treatments for Xanthomatosis cerebrotendinous: see treatments for Xanthomatosis cerebrotendinous
Research for Xanthomatosis cerebrotendinous: see research for Xanthomatosis cerebrotendinous

Name and Aliases of Xanthomatosis cerebrotendinous

Main name of condition: Xanthomatosis cerebrotendinous

Other names or spellings for Xanthomatosis cerebrotendinous:

CTX, Cerebrotendinous Xanthomatosis, Cerebral Cholesterinosis

CTX, Cerebrotendinous Xanthomatosis
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Xanthomatosis cerebrotendinous: Related Conditions

Research the causes of these diseases that are similar to, or related to, Xanthomatosis cerebrotendinous:


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