Fatal familial insomnia

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Other Names:

Familial fatal insomnia; Insomnia familial fatal

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Fatal familial insomnia (FFI) affects the thalamus, the part of the brain that controls the sleep-wake cycle. Symptoms typically begin between the ages of 40-60 years. The most common symptoms are sleep disturbance, psychiatric problems, weight loss, and balance problems. Other symptoms include high blood pressure, excess sweating, and difficulty controlling body temperature. These symptoms tend to get worse over time. FFI is usually fatal in 6-36 months. Almost all cases of FFI occur due to a specific variant in the PRNP gene and are inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, sleep study, and imaging studies. The results of genetic testing can help confirm the diagnosis. Treatment for FFI is focused on managing the symptoms.^[1]^[2]^[3]^[4]^[5]

Last updated: 11/11/2020

Symptoms Symptoms

The following list includes the most common signs and symptoms in people with fatal familial insomnia (FFI). These features may be different from person to person. Some people may have more symptoms than others, and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Symptoms of FFI may include:^[1]^[2]^[4]

Inability to fall asleep or stay asleep (insomnia)
Difficulty thinking and concentrating (cognitive impairment)
Short-term memory loss
Weight loss
Difficulty coordinating movements
High blood pressure
Inability to maintain body temperature
Excessive sweating and tearing

The first symptoms of FFI usually begin between the ages of 40 and 60 years. Initial symptoms usually include difficulty sleeping and problems with thinking and concentration. The insomnia gets worse over time, leading to high blood pressure, rapid heart rate, weight loss, and trouble controlling body temperature. Other symptoms that may develop include uncoordinated movements (ataxia), hallucinations, severe confusion (delirium), and difficulty swallowing. Death usually occurs within 6-36 months after symptoms begin. Death is usually due to heart problems or infections.^[1]^[2]^[4]

Last updated: 11/11/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 18 |

Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormal autonomic nervous system physiology		0012332
Adult onset	Symptoms begin in adulthood	0003581
Apnea		0002104
Ataxia		0001251
Autosomal dominant inheritance		0000006
Childhood onset	Symptoms begin in childhood	0011463
Constipation		0002019
Dementia	Dementia, progressive Progressive dementia [ more ]	0000726
Diplopia	Double vision	0000651
Dysarthria	Difficulty articulating speech	0001260
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Fever		0001945
Hyperhidrosis	Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ]	0000975
Insomnia	Difficulty staying or falling asleep	0100785
Myoclonus		0001336
Neuronal loss in central nervous system	Loss of brain cells	0002529
Urinary retention		0000016
Weight loss		0001824

Showing of 18 |

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Last updated: 2/1/2021

Cause Cause

Fatal familial insomnia (FFI) occurs when the PRNP gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all. In almost every case, FFI is caused by a very specific variant in the PRNP gene.^[1]^[2]

Last updated: 11/11/2020

Inheritance Inheritance

Fatal familial insomnia (FFI) is inherited in an autosomal dominant pattern.^[1]^[2]^[5] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition. The variant can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic variant (de novo), and there is no history of this condition in the family.

Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the variant and the condition. Typically, children who inherit a dominant variant will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene variant for an autosomal dominant condition and show no signs or symptoms of the condition.

Last updated: 11/11/2020

Diagnosis Diagnosis

Fatal familial insomnia (FFI) is diagnosed based on the symptoms, clinical exam, a sleep study (polysomnography), and imaging tests. The results of genetic testing may be helpful to help confirm the diagnosis.^[1]^[2] A list of features for diagnosing FFI (diagnostic criteria) has been published.[15895][15897]

Last updated: 11/11/2020

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

Treatment for fatal familial insomnia (FFI) is focused on managing the symptoms and providing comfort for the person with FFI.^[1]^[2]

Specialists involved in the care of someone with FFI may include:

Neurologist
Medical geneticist
Social worker

Last updated: 11/11/2020

Statistics Statistics

There have been at least 70 families with fatal familial insomnia (FFI) reported in the scientific literature. The exact number of people with FFI is unknown.^[2]^[4]

Last updated: 11/11/2020

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Fatal familial insomnia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Creutzfeldt-Jakob Disease Foundation, Inc (CJD Foundation)
3610 W. Market St.
Suite 110
Akron, OH 44333
Toll-free: 1-800-659-1991
Fax: +1-234-466-7077
E-mail: help@cjdfoundation.org
Website: https://cjdfoundation.org

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

MedlinePlus Genetics contains information on Fatal familial insomnia. This website is maintained by the National Library of Medicine.
The Merck Manual provides information on this condition for patients and caregivers.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Fatal familial insomnia. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

GARD Answers GARD Answers

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I have had insomnia for months and believe I have fatal familial insomnia. The doctor says my sleep study shows I don't have it. How can he tell? See answer

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References References

Khan Z, Bollu PC.. Fatal Familial Insomnia.. StatPearls. Updated May 27, 2020; https://pubmed.ncbi.nlm.nih.gov/29489284/.
Cracco L, Appleby BS, Gambetti P. Fatal familial insomnia and sporadic fatal insomnia. Handb Clin Neurol. 2018;153:271-299. 2018; 153:271-299. https://pubmed.ncbi.nlm.nih.gov/29887141/.
Baldelli L, Provini F. Fatal familial insomnia and Agrypnia Excitata: Autonomic dysfunctions and pathophysiological implications. Auton Neurosci. May 2019; 218:68-86. https://pubmed.ncbi.nlm.nih.gov/30890351/.
Wu LY, Zhan SQ, Huang ZY, Zhang B, Wang T, Liu CF, et al. Expert Consensus on Clinical Diagnostic Criteria for Fatal Familial Insomnia.. Chin Med J (Engl). Jul 5, 2018; 131(13):1613-1617. https://pubmed.ncbi.nlm.nih.gov/29941716/.
Baldwin KJ, Correll CM. Prion Disease. Semin Neurol. Aug 2019; 39(4):428-439. https://pubmed.ncbi.nlm.nih.gov/31533183/.
Burchell JT and Panegyres PK. Prion diseases: immunotargets and therapy. ImmunoTargets and Therapy. June 16 2016; 5:57-68. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970640/.
Krasnianski A, Bartl M, Sanchez Juan PJ, et al. Fatal familial insomnia: clinical features and early identification. Ann Neurol. 2008; 63(05):658-661. https://pubmed.ncbi.nlm.nih.gov/18360821/.