Sporadic fatal insomnia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sporadic fatal insomnia | |
| fr | Insomnie fatale sporadique | |
| de | Insomnie, fatale sporadische | SFI |
| es | Insomnio fatal esporádico | |
| it | Insonnia sporadica letale | |
| nl | Sporadische fatale insomnie | |
| pt | Insónia fatal esporádica | |
| pl | Sporadyczna śmiertelna bezsenność | |
| cs | Sporadická fatální nespavost | |
| uk | Спорадичне фатальне безсоння | |
| zh | Sporadic fatal insomnia | |
| tr | Sporadic fatal insomnia |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | A81.9 | NTBT | attributed | validated |
| ICD-11 | 6D85.5 | NTBT | index | validated |
| MONDO | 0035614 | E | validated | |
| UMLS | C5567889 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:576356Sporadic human prion disease
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 27 cases | Worldwide | Case(s) | Validated | 30048013[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30048013[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/586130
- This record as JSON: /data/d/586130.json