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Misdiagnosis Common for Rare Brain Disease: Study

Last Updated: September 25, 2012.

Fatal 'sporadic Creutzfeldt-Jakob disease' is often mistaken for other degenerative conditions/


Fatal 'sporadic Creutzfeldt-Jakob disease' is often mistaken for other degenerative conditions

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TUESDAY, Sept. 25 (HealthDay News) -- A variety of misdiagnoses often delay correct diagnosis of a fatal brain disorder called sporadic Creutzfeldt-Jakob disease (sCJD), according to a new study.

Misdiagnosis of sporadic Creutzfeldt-Jakob disease occurs due to factors such as variability of early symptoms and signs and lack of recognition in the medical community. The disease is often mistaken for other degenerative brain conditions such as Alzheimer's disease.

About 200 cases of Creutzfeldt-Jakob disease -- sCJD is the most common form -- occur in the United States yearly, according to the U.S. National Institute of Neurological Disorders and Stroke. Risk factors for the sporadic form aren't known.

"In any patient with a rapidly progressive dementia who has been given multiple potential diagnoses, sCJD must be considered," wrote Ross Paterson and colleagues at the University of California, San Francisco.

In this study, researchers reviewed the cases of 97 patients with sporadic Creutzfeldt-Jakob disease, aged 26 to 83, and found they had received a combined total of 373 other diagnoses prior to their correct diagnosis, with an average of 3.8 misdiagnoses per patient, according to a university news release.

The misdiagnoses were most often made by primary care doctors and neurologists. Among the 17 (18 percent) patients who were correctly diagnosed at the first assessment, the diagnosis was almost always made by a neurologist.

Average time from onset of symptoms to diagnosis was almost eight months, an average of two-thirds of the way through the course of the disease.

The authors said "early and accurate" diagnosis of the disease is valuable for public health reasons and to enable potential treatments to be tested as early as possible in the course of the disease.

"It would therefore be valuable to improve early and accurate diagnosis of sCJD [before death] to identify at-risk persons, allowing for public health measures that would prevent transmission to healthy individuals through blood donation, infected surgical equipment and or other medical procedures," the researchers concluded.

The study was published online Sept. 24 in the Archives of Neurology.

More information

The U.S. National Institute of Neurological Disorders and Stroke has more about Creutzfeldt-Jakob disease.

SOURCE: Archives of Neurology, news release, Sept. 24, 2012

Copyright © 2012 HealthDay. All rights reserved.

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