Fatal familial insomnia

Fatal Familial Insomnia (pronunciation: fay-tuhl fa-mil-ee-uhl in-som-nee-uh) is a rare, genetic neurodegenerative disease that results in severe insomnia and other neurological problems.

Etymology

The term "Fatal Familial Insomnia" is derived from the nature of the disease. "Fatal" refers to the inevitable outcome of the disease, "Familial" indicates its genetic origin, and "Insomnia" describes the primary symptom.

Definition

Fatal Familial Insomnia (FFI) is a prion disease of the brain. It is characterized by progressive and severe insomnia, followed by hallucinations, delirium, and dysautonomia. It is invariably fatal, usually within a year or two after onset of symptoms.

Symptoms

The symptoms of Fatal Familial Insomnia include:

• Progressive and severe Insomnia
• Hallucinations
• Delirium
• Dysautonomia

Causes

Fatal Familial Insomnia is caused by a mutation in the PRNP gene, which provides instructions for making a protein called prion protein (PrP). This mutation causes the prion protein to fold into an abnormal shape, which leads to a buildup of these misfolded proteins in the brain, causing the symptoms of FFI.

Diagnosis

Diagnosis of Fatal Familial Insomnia is based on the presence of characteristic symptoms, a family history of the disease, and genetic testing to identify the PRNP gene mutation.

Treatment

There is currently no cure for Fatal Familial Insomnia. Treatment is focused on managing symptoms and providing supportive care.

Related Terms

• Prion Diseases
• Insomnia
• Neurodegenerative Diseases
• Genetic Disorders

External links

• Medical encyclopedia article on Fatal familial insomnia
• Wikipedia's article - Fatal familial insomnia

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