Creutzfeldt-Jacob Disease

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Diagnosis & Tests

The rapid onset and progression of symptoms is what distinguishes CJD from most other dementias. Characteristics of the disorder include rapidly progressive dementia, myoclonus (rapid and brief muscle contraction or "jerk"), and rigidity of the body.

A neurological and motor system examination shows muscle twitching and spasm. There is a strong startle response. Muscle tone may be increased, or there may be weakness and muscle wasting (loss of muscle tissue). There may be abnormal reflexes or an increase in the response of normal reflexes.

Examination of visual fields show areas of blindness that the person may not realize are present. There is loss of coordination related to visual-spatial perception changes and changes in the cerebellum, the area of the brain that controls coordination (cerebellar ataxia).

An EEG (electroencephalograph, a reading of electrical activity of the brain) shows characteristic changes indicating Creutzfeldt-Jacob disease, if the symptoms have been present for at least 3 months.

Though not diagnostic, presence of the 14-3-3 protein in the spinal fluid (obtained by lumbar puncture, also called "spinal tap") is highly suggestive of the disease, when accompanied by other characteristic symptoms.

Ultimately, the disease can only be confirmed by brain biopsy or by a post-mortem examination. This shows the characteristic spongiform (sponge-like) changes in the brain.