Creutzfeldt-Jakob's Disease

There is no cure, nor any treatment known to alter the course of any form of CJD. About 90 percent of patients die within 1 year. In the early stages of disease, patients may have failing memory, behavioral changes, lack of coordination and visual disturbances. Opiate drugs can help relieve pain, and the drugs clonazepam and sodium valproate may help relieve involuntary muscle jerks. As the illness progresses, mental deterioration becomes pronounced and involuntary movements, blindness, weakness of extremities, and coma may occur.

There is no absolute simple, non-invasive diagnostic test for CJD in general. The definite diagnosis is by neuropathological examination of brain tissue. Obviously, this can be undertaken at autopsy to obtain a post mortem diagnosis. In the living, it is possible to undertake a brain biopsy but this is risky and rarely necessary. There are validated clinical diagnostic criteria, based on typical symptoms and the results of certain investigations, which allow most suspect cases to be classified as either 'probable' or 'possible'.

There are four main types of Creutzfeldt-Jakob Disease (CJD):

• Sporadic CJD (spCJD)
• Variant CJD (vCJD)
• Genetic CJD (gCJD)
• Iatrogenic CJD (iCJD)

The GP is usually the first doctor consulted. They will probably institute investigations related to common, often treatable illnesses that might be responsible for early symptoms. However, referral to a specialist will become necessary at some point. The initial specialist may be a general physician, a geriatrician, a clinical neurologist, a clinical psychologist or a psychiatrist, depending on particular patient factors and local circumstances.

However, a clinical neurologist is usually involved at some point. The GP may need to try and obtain an early appointment in the more rapidly progressive cases. In familial/genetic cases, it may be important to refer the family to a clinical genetics service for appropriate genetic advice.