Cerebrotendinous Xanthomatosis (CTX) Questions & Answers

Updated: Jun 20, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Maria Descartes, MD  more...
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Questions & Answers

Overview

What is cerebrotendinous xanthomatosis (CTX)?

What is the pathophysiology of cerebrotendinous xanthomatosis (CTX)?

What is the prevalence of cerebrotendinous xanthomatosis (CTX) in white populations?

What is the prevalence of cerebrotendinous xanthomatosis (CTX) in the US?

What is the global prevalence of cerebrotendinous xanthomatosis (CTX)?

What is the mortality associated with cerebrotendinous xanthomatosis (CTX)?

What is the morbidity associated with cerebrotendinous xanthomatosis (CTX)?

What are the racial predilections of cerebrotendinous xanthomatosis (CTX)?

What is the sexual predilection of cerebrotendinous xanthomatosis (CTX)?

At what age does cerebrotendinous xanthomatosis (CTX) typically present?

What is the prognosis of cerebrotendinous xanthomatosis (CTX)?

Presentation

How is cerebrotendinous xanthomatosis (CTX) diagnosed?

What are the signs and symptoms of cerebrotendinous xanthomatosis (CTX)?

What are the neurologic signs and symptoms of cerebrotendinous xanthomatosis (CTX)?

What are the muscular signs and symptoms of cerebrotendinous xanthomatosis (CTX)?

What are the less common manifestations of cerebrotendinous xanthomatosis (CTX)?

What causes cerebrotendinous xanthomatosis (CTX)?

DDX

What are the differential diagnoses for Cerebrotendinous Xanthomatosis (CTX)?

Workup

What is the role of lab tests in the workup of cerebrotendinous xanthomatosis (CTX)?

What is the role of urine testing in the workup of cerebrotendinous xanthomatosis (CTX)?

What is the role of bile analysis in the workup of cerebrotendinous xanthomatosis (CTX)?

What is the role of CSF analysis in the workup of cerebrotendinous xanthomatosis (CTX)?

What is the role of genetic tests in the workup of cerebrotendinous xanthomatosis (CTX)?

What is the role of EMG in the workup of cerebrotendinous xanthomatosis (CTX)?

What is the role of imaging studies in the workup of cerebrotendinous xanthomatosis (CTX)?

Which studies may be helpful in the workup of cerebrotendinous xanthomatosis (CTX)?

Which CNS findings are characteristic of cerebrotendinous xanthomatosis (CTX)?

Which peripheral nerve findings are characteristic of cerebrotendinous xanthomatosis (CTX)?

Which muscular findings are characteristic of cerebrotendinous xanthomatosis (CTX)?

Which histologic findings of the liver are characteristic of cerebrotendinous xanthomatosis (CTX)?

Which histologic xanthoma findings are characteristic of cerebrotendinous xanthomatosis (CTX)

Treatment

How is cerebrotendinous xanthomatosis (CTX) treated?

What is the role of surgery in the treatment of cerebrotendinous xanthomatosis (CTX)?

Which specialist consultations are beneficial to patients with cerebrotendinous xanthomatosis (CTX)?

Which dietary modifications are used in the treatment of cerebrotendinous xanthomatosis (CTX)?

What is the role of chenodeoxycholic acid (CDCA) in the treatment of cerebrotendinous xanthomatosis (CTX)?

What is included in the long-term monitoring of cerebrotendinous xanthomatosis (CTX)?

Medications

What is the role of medications in the treatment of cerebrotendinous xanthomatosis (CTX)?

Which medications in the drug class Bile Acids are used in the treatment of Cerebrotendinous Xanthomatosis (CTX)?