Creutzfeldt Jacob disease

Creutzfeldt Jacob disease is a rare, transmittable disorder that affects the brain. It is caused by prions, which are unusual proteins that lead to brain damage. In this condition, the brain tissue gradually develops tiny holes, giving it a sponge-like appearance. This process is known as spongiform degeneration and affects important areas of the brain such as the cerebral and cerebellar cortex. People with this condition often experience changes in sleep patterns and personality, and may have difficulties with language (aphasia) and coordination (ataxia). The effects on the brain lead to other issues like muscle atrophy, weakness, poor vision, and involuntary jerking movements known as myoclonus. Unfortunately, the disease progresses quickly, and it typically leads to death within about a year from the start of symptoms.

Common symptoms of Creutzfeldt Jacob disease include sleep disturbances, changes in personality, problems with language such as aphasia, difficulties with balance and coordination (ataxia), muscle weakness and atrophy, visual problems, and sudden, uncontrollable movements called myoclonus.

The disease is caused by abnormal proteins called prions. These prions lead to the deterioration of brain tissue, resulting in the symptoms observed in this condition. There is no known genetic link or specific risk factor beyond the prion-related mechanism that causes the damage.

Information about treatment is currently limited for this condition.

Creutzfeldt Jacob disease typically has a very serious outlook. It is a rapidly progressing condition that usually leads to death within about a year of the start of symptoms. The speed and severity of the disease mean that quality of life is significantly impacted as the condition advances.

Information about research is currently limited for this condition. Ongoing studies aim to understand how prions affect the brain and to explore potential ways of slowing the disease's progression.