Creutzfeldt Jakob Disease

Creutzfeldt Jakob Disease

 Creutzfeldt - Jakob disease (CJD) is a serious and degenerative brain disease wherein patients manifest memory problems, personality changes and involuntary muscle jerks. The symptoms develop rapidly with the majority of patients dying within a year. ^[1]

Epidemiology

The disease affects one person per one million people globally. There are around 200 reported cases every year in the U.S. Average age of onset is 60 years old. ^[2]

Causes

CJD is broadly classified into three. In the sporadic type, the disease is present even without any risk factors. This is the most common type and it has been estimated that 85 percent of the cases belong to this type. The second type is the hereditary CJD and as the name implies, the patient has a family member who had the same disease or had a positive test for a genetic mutation linked with CJD. The third one is called acquired CJD which is the rarest one and is obtained via contact with infected tissue often during a medical procedure. Cattles may acquire a CJD associated ailment called mad cow disease. There had been speculations that humans can get a variant of CJD after ingestion of an infected meat however there is still no solid evidence to support such claim. ^[1][2]

Signs and Symptoms

At the onset, patients experience problems with muscle coordination, behavioral changes, memory impairment and problems with vision. Some may have insomnia and bizarre sensations. At the latter part, the patient may develop involuntary muscle jerks, severe mental impairment, paralysis and blindness. Some develop infections and some go into coma. ^[2]                                           

Diagnosis

At present, there is no single diagnostic test available. It is important to rule out treatable diseases that may mimic CJD such as encephalitis and meningitis. Neurologic examinations are typically done. Laboratory tests that may be performed include spinal tap, electroencephalogram (EEG), CT scan and MRI of the brain. The only confirmatory method is brain biopsy or autopsy. ^[2]

Treatment

There is currently no cure for the disease. The objective is to alleviate symptoms such as by giving opiate drugs for pain and sodium valproate for the muscle jerks. Social support and providing the patient a safe environment are indispensable. Family counseling may help the family cope up with the changes brought about by the disease. ^[1][2]

References:

1.      http://www.nlm.nih.gov/medlineplus/creutzfeldtjakobdisease.html

2.      http://www.ninds.nih.gov/disorders/cjd/detail_cjd.htm

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