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Sunday, December 6, 2009

Diagnosing and Mis-Diagnosing CJD

November 17, 2009 in Features
Dr. Gott: Rare, degenerative brain disease is fatal
Peter H. Gott, M.D. The Spokesman-Review
Tags: advice Dr. Gott health syndicated columnists

DEAR DR. GOTT: In reading your column about the 72-year-old man with ALS, I have
some questions. My husband, also 72, was diagnosed with Creutzfeldt-Jakob
disease. The physicians were not positive but indicated he had the earmarks for
it. His death certificate lists the disease as the cause. The family anticipated
an autopsy after his death, but it was not allowed because the coroners refused
to do it due to the seriousness of the disease. Without the autopsy we are not
sure of the actual cause of death.

My husband's symptoms were very similar to the ones discussed in your article. I
particularly noticed the statement about a "gene mutation." My husband's doctors
mentioned a gene mutation.

He endured many tests. My entire family experienced an emotional roller coaster
daily due to physicians indicating medicines would be able to help him lead a
somewhat normal life. The disease progressed rapidly, leaving no time to arrange
things. He was not allowed to die with any degree of dignity. After his death it
was even worse due to the seriousness of Creutzfeldt-Jakob disease. No one
wanted to be involved.

DEAR READER: Creutzfeldt-Jakob disease is a rare, degenerative brain disorder
that is always fatal. In the United States, there are about 200 cases a year. It
typically occurs later in life and progresses rapidly. Onset of symptoms usually
begins around age 60, with about 90 percent of sufferers dying within a year.

There are three categories of Creutzfeldt-Jakob disease. The first and rarest is
acquired, which is contracted by exposure to brain or nervous-system tissue,
usually through certain medical procedures. Since first being described in 1920,
less than 1 percent of cases have been acquired.

The next is hereditary, accounting for 5 to 10 percent of all cases. This is
diagnosed when the sufferer has a family history of the disease and/or tests
positive for a genetic mutation associated with it.

The final and most common category is sporadic. This variety accounts for at
least 85 percent of all cases. It occurs in people who have no known risk
factors, genetic mutations or family history for Creutzfeldt-Jakob disease.

Symptoms usually begin as problems with muscular coordination, impaired vision,
memory, judgment and thinking, personality changes and rapidly progressive
dementia. Many sufferers also experience depression, insomnia or unusual
sensations. As it progresses, mental impairment becomes severe. Most develop
involuntary muscle jerks and may go blind. Eventually, the ability to move and
speak is lost and the patient enters a coma.

Symptoms can be similar to those of other progressive neurological disorders but
there are unique changes in brain tissue that can be seen at autopsy. It also
typically causes a faster deterioration of abilities than other neurological

There is no treatment at this time that can cure or control the disorder.
Creutzfeldt-Jakob disease cannot be transmitted through the air, by touch or
through most other forms of casual contact. This means that unless you have
direct contact with contaminated brain or nervous-system tissue or have a family
history or gene mutation, there is little chance of developing the condition.

I understand your concerns about not having a proper diagnosis and autopsy. I
also understand the coroners' concerns about performing the autopsy. Other more
qualified professionals, such as the Centers for Disease Control and Prevention,
should have been called in to handle the situation.

If you want to learn more about this disease, go online to the National
Institute of Neurological Disorders and Stroke (which is part of the National
Institutes of Health) where you can read and print out the Creutzfeldt-Jakob
disease fact sheet at cjd/detail_cjd.htm.

Dr. Peter Gott is a retired physician and the author of the book "Dr. Gott's No
Flour, No Sugar Diet." Readers may write to Dr. Gott c/o United Media, 200
Madison Ave., Fourth Floor, New York, NY 10016.\

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