Fatal familial insomnia

From WikiMD.org
Jump to navigation Jump to search

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:

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

External links

Esculaap.svg

This WikiMD dictionary article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski