Definition

Creutzfeldt-Jakob disease (CJD) is a rare, fatal, degenerative brain disorder characterized by rapidly progressive dementia and neuromuscular problems.

There are four types of CJD:

• Sporadic (classical) CJD—most common type; usually affects people age 50 and older
• Familial CJD—an inherited form of the disease
• Iatrogenic CJD—contracted through medical procedures, such as injections of growth hormone or receipt of corneal transplants or dura mater implants from affected donors
• New variant CJD (nvCJD)—a relatively new form of CJD. It is caused by eating contaminated beef products, which may cause bovine spongiform encephalopathy (BSE). BSE is commonly known as mad cow disease. nvCJD differs from other forms of CJD because it affects younger people and has a longer average time course.

Causes

There has been a great deal of scientific research and debate about the cause of CJD. Today, it is generally believed that most noninherited cases are caused by infectious proteins called prions. Prions can transform normal protein molecules into abnormal, disease-causing molecules.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition.

Risk factors include:

• Age: CJD most commonly occurs in people ages 50 to 75.
• Use of cadaveric growth hormone
• Cornea transplants
• Dura mater grafts
• Family members with CJD (Approximately 5%-10% of cases are inherited.)
• Eating beef products produced by countries with an epidemic of BSE (mad cow disease)
• Healthcare workers who work with brain tissues

Symptoms

Initially, there are no symptoms. As CJD progresses, symptoms that may occur include:

• Memory lapses
• Difficulty concentrating
• Impaired judgement
• Difficulty with speech
• Loss of coordination
• Blurred vision
• Behavior and mood changes
• Muscle spasms
• Seizures
• Loss of mental and physical function

Depending on the type of CJD, the disease may last from 3 to 36 months, or occasionally longer, and is almost always fatal.

Diagnosis

Your doctor will ask about your symptoms and medical history, and perform a physical exam.

CJD is a difficult disease to diagnose, as there is no single test for detection. The following tests may be used to help make a diagnosis:

• Electroencephalogram (EEG)—a test that records the brain's activity by measuring electrical currents through the brain.
• CT scan—a type of x-ray that uses a computer to make pictures of the inside of the body, in this case the brain
• MRI scan—a test that uses magnetic waves to make pictures of the inside of the body, in this case the brain
• Brain biopsy—removal of a sample of brain tissue for testing
• Blood tests and lumbar puncture—to obtain cerebrospinal fluid; This may be helpful in distinguishing CJD from other diseases with similar symptoms, such as Alzheimer’s disease.

MRI Scan of the Brain

© 2008 Nucleus Medical Art, Inc.

Treatment

There is no cure for CJD. The aim of treatment is to relieve pain and alleviate symptoms.

Drug therapy may include:

• Opiate medication to treat pain
• Anticonvulsive drugs to help decrease neuromuscular problems

Prevention

To avoid the new variant form of this condition, it is recommended that you avoid eating beef produced in areas that may have BSE (mad cow disease). There are no known ways to prevent other forms of CJD.