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Creutzfeldt Jakob Disease - Causes, Symptoms and Treatment

Definition of Creutzfeldt Jakob Disease:

Creutzfeldt Jakob disease (CJD) is a rapidly progressive viral disease that attacks the central nervous system, causing dementia accompanied by neurologic symptoms such as myoclonic jerking, ataxia, aphasia, visual disturbances, and paralysis. It generally affects adults aged 40 to 65 years and is found in over 50 countries, affecting males and females equally. Higher incidences of creutzfeldt jakob disease have been found among Libyan Jewish immigrants to Israel, residents of Czechoslovakia, and North African immigrants to France. Most die of pneumonia within 3 to 12 months of onset of symptoms; 5 to 10 percent survive for 2 years or more. A new variant of creutzfeldt jakob disease emerged in Europe in 1996.

Causes of Creutzfeldt Jakob Disease

The causative organism is difficult to identify because no foreign RNA or DNA has been linked to the disease. Creutzfeldt jakob disease is believed to be caused by a specific protein called a prion, which lacks nucleic acids, resists proteolytic digestion, and spontaneously aggregates in the brain. Prions are also associated with several other degenerative brain diseases, notably Alzheimer's disease and Kuru. Most cases are sporadic; 5% to 15% are familial with an autosomal dominant pattern of inheritance. Although creutzfeldt jakob disease is not transmitted by normal casual contact, human-to-human transmission has occurred inadvertently as a result of certain medical procedures, such as corneal and cadaveric dura mater grafts.

Isolated cases have been attributed to treatment during childhood with growth hormone prepared from cadaveric human pituitary glands, and to improperly decontaminated neurosurgical instruments and brain electrodes.

Signs and Symptoms of Creutzfeldt Jakob Disease

The disease is divided in three stages. The progression from stage 1 to stage 2 may only be several weeks. Usually the progression from stage 2 to stage 3 is from 6 to 18 months. Sometimes symptoms from all stages occur simultaneously. Early signs of mental impairment may be manifested as slowness in thinking, difficulty concentrating, impaired judgment, and memory Joss. Muscle twitching occurs within 6 months after symptoms begin, along with trembling, clumsiness, peculiar body movements, and visual disturbances. Specific clinical manifestations have been desclibed depending on the predominant involvement of certain regions of the brain (occipital, thalamic, and cerebellar types.)

Diagnosis of Creutzfeldt Jakob Disease

Creutzfeldt jakob disease must be considered for anyone presenting with signs of progressive dementia. Neurological examination remains the most effective tool in diagnosing Creutzfeldt jakob disease. Difficulty with rapid alternating movements and point to point examinations are often evident early in the disease. Other findings may include difficulty in tandem, heel-to-toe, and normal walking; Romberg's sign; altered muscle tonicity; loss of sensation; exaggerated deep tendon reflexes of the arms and legs; nonelicitable ankle reflexes; negative abdominal reflexes; and a positive Babinski's sign.

An EEG may also be performed to assess typical changes in brain wave activity. Initially, the EEG is normal but eventually develops a characteristic pattern of slow wave activity and rhythmic, periodic bursts of high voltage, diphasic, or triphasic sharp wave complexes intervening with periods of electrical silence.

Other causes of dementia, such as tumors, must be ruled out using CT scans or MRI of the brain. Lumbar puncture should be done to rule out bacterial infection of the brain and central nervous system. Definitive diagnosis is usually not obtained until an autopsy is done and brain tissue is examined. Care must be taken by the pathologist and anyone else in potential contact with the cadaveric materials due to the risk of infection.

Alzheimer's disease, Gerstmann-Stdiussler-Scheinker disease, fatal familial insomnia, and Kuru are other conditions to consider.

Treatment for Creutzfeldt Jakob Disease

There is no cure for creutzfeldt jakob disease and its progress cannot be slowed. Palliative care is given to make the patient comfortable and to treat the symptoms.

Special considerations and Prevention Tips for Creutzfeldt Jakob Disease

1) Direct the patient and family to CJD support groups and encourage participation.

2) Allow for and assist the patient and family through the grieving process.

3) To prevent disease transmission, use caution when handling fluids and other materials from patients suspected of having CJD.

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