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Creutzfeldt-Jakob Disease: Symptoms, Diagnosis and Treatment

Creutzfeldt-Jakob Disease (CJD) is a rare, yet fatal, brain disease characterized by the spongy degeneration of the brain. Although CJD and mad cow disease (properly known as bovine spongiform encephalopathy, or BSE) affect the brain the same way and cause similar damages, they are not related. However, a different type of CJD, known as variant Creutzfeldt-Jakob Disease (vCJD) is strongly linked to mad cow disease, and can probably be caught by eating beef products from diseased cattle. Compared to classic CJD, vCJD affects younger patients and has a duration of 12 to 14 months. Both CJD and vCJD are believed to be caused by abnormally folded proteins known as prions.

Unlike diseases such as influenza or tuberculosis, CJD is not transmissible from person to person by normal contact, aerosol droplets or environmental contamination. Most cases occur spontaneously and, fewer than 5 percent of CJD transmissions occur through invasive medical procedures (such as dura mater or corneal transplants) involving surgical equipment contaminated with brain tissue, according to the World Health Organization. Although people may get the disease by inheriting the mutated prion, such cases only account for 5 to 10 percent of all cases, according to the WHO. CJD is rare, affecting approximately one in a million people every year year.

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Credit: 3DScience.com

Signs & Symptoms

The disease mainly affects brain function and its symptoms are similar to that of Alzheimer's and Huntington's disease. They include memory loss, impaired thinking, difficulty speaking and swallowing, anxiety, personality change and involuntary muscle jerks. But unlike other psychiatric illnesses, these mental deteriorations happen far quicker, usually within a few months, according to the Mayo Clinic.

Diagnosis & Tests

Diagnostic methods for CJD usually involve measuring the brain electrical activity and getting images of the brain. EEG scans can detect characteristically abnormal brain patterns and MRI can reveal the damages present in the white and gray matter of the brain. Cerebral spinal fluid collected through lumbar puncture will usually have a normal result, but with the exception of a slightly increased total protein count, according to the University of California, San Francisco. A tonsil biopsy may help diagnose vCJD, since lymphoid tissues tend to show evidence of the disease. However, this would not be readily detected in classic CJD patients, making the procedure less reliable for them.

Ultimately, only a brain biopsy or autopsy can reveal the sponge-like damage in the brain and confirm a CJD diagnosis, according to the National Institutes of Health. The brain of a vCJD patient shows microscopic prion protein plaques circled by a halo of holes (like a daisy) known as "florid plaques." These are rarely seen in classic CJD patients, according to the CDC. Since a correct diagnosis of CJD would not help the patient or reverse the course of the disease, a brain biopsy is often discouraged unless it's needed to rule out other possible mental disorders.

 

Complications

Most patients lapse into a coma as the disease progresses and the symptoms worsen. The cause of death is usually due to heart failure, respiratory failure, pneumonia or other infections, according to the Mayo Clinic.

About 90 percent of patients with spontaneous CJD die within a year of diagnosis, while others might die within just a few weeks, according to the National Institute of Neurological Disorders and Stroke (NINDS).

Treatments & Medication

There are no treatments for CJD. According to the prion theory, once the prion is introduced into the body, it quickly distorts and misfolds other proteins in the body, rapidly building up clumps of "bad" proteins.

However, medications may be used to treat some of the symptoms and aggressive behaviors. Opiate drugs can help relieve pain, while clonazepam and sodium valproate may help relieve involuntary muscle jerks, according to the NINDS. Patients require custodial care and a safe environment, either at home or in an institutionalized setting while their mental functions worsen.

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