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Disease Profile
Fatal familial insomnia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Adult
ICD-10
A81.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Familial fatal insomnia; Insomnia familial fatal
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Fatal
Symptoms
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 (
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.
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 | |
0000006 | ||
Childhood onset |
Symptoms begin in childhood
|
0011463 |
Constipation | 0002019 | |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 | |
Diplopia |
Double vision
|
0000651 |
Difficulty articulating speech
|
0001260 | |
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 |
Loss of brain cells
|
0002529 |
Urinary retention | 0000016 | |
Weight loss | 0001824 |
Diagnosis
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.
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
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.
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/.
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