Atypical progressive supranuclear palsy syndrome
Synonyms: Atypical PSP syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Age of onset
- Adult, Elderly
- Status
- active
A form of progressive supranuclear palsy syndrome (PSP), a rare late-onset neurodegenerative disease, characterized by an underlying PSP-tau pathology, that does not conform to the classic presentation of PSP. The clinical phenotype is variable and comprises PSP with predominant Parkinsonism (PSP-P), PSP with progressive gait freezing (PSP-PGF), PSP with predominant corticobasal syndrome (PSP-CBS), PSP with predominant speech/language disorder (PSP-SL), PSP with predominant frontal presentation (PSP-F), PSP with predominant ocular motor dysfunction (PSP-OM), and PSP with predominant postural instability (PSP-PI).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atypical progressive supranuclear palsy syndrome | Atypical PSP syndrome |
| fr | Syndrome de paralysie supranucléaire progressive atypique | Syndrome PSP atypique |
| de | Progressive supranukleäre Blickparese, atypische | Atypische PSP |
| es | Síndrome de parálisis supranuclear progresiva atípica | Síndrome de PSP atípica |
| it | Paralisi sopranucleare progressiva atipica | PSP atipica |
| nl | Atypische progressieve supranucleaire paralyse-syndroom | Atypische PSP-syndroom · Atypische progressieve supranucleaire verlamming-syndroom |
| pt | Síndrome de paralisia supranuclear progressiva atípica | |
| pl | Atypowe postępujące porażenie nadjądrowe | Atypowe PSP |
| cs | Syndrom atypické progresivní supranukleární obrny | Atypický PSP syndrom |
| uk | Атиповий синдром прогресуючого надядерного паралічу | Атиповий синдром ПСП |
| zh | 非典型进行性核上性麻痹综合征 | 非典型PSP综合征 |
| tr | Atipik ilerleyici supranükleer felç sendromu | Atipik PSP sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260540 | BTNT | validated | |
| ICD-10 | G23.1 | NTBT | attributed | validated |
| ICD-11 | 8A00.10 | NTBT | index | validated |
| MONDO | 0020488 | E | validated | |
| MeSH | C537240 | E | validated | |
| UMLS | C5548371 | E | validated | |
| GARD | 4507 | 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:683Progressive supranuclear palsy
rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
Children (4):
- ORPHA:240103Progressive supranuclear palsy-corticobasal syndrome
- ORPHA:240085Progressive supranuclear palsy-predominant parkinsonism syndrome
- ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
- ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | [EXPERT] |
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
28 annotations · validated 2018-12-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001300 | Parkinsonism | |
| Frequent (79-30%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0000643 | Blepharospasm | |
| HP:0002067 | Bradykinesia | |
| HP:0000726 | Dementia | |
| HP:0025330 | Downgaze palsy | |
| HP:0010526 | Dysgraphia | |
| HP:0007076 | Extrapyramidal muscular rigidity | |
| HP:0002527 | Falls | |
| HP:0005329 | Fixed facial expression | |
| HP:0031825 | Freezing of gait | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0001268 | Mental deterioration | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0002063 | Rigidity | |
| HP:0011098 | Speech apraxia | |
| HP:0009088 | Speech articulation difficulties | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001260 | Dysarthria | |
| HP:0010522 | Dyslexia | |
| HP:0004373 | Focal dystonia | |
| HP:0004302 | Functional motor deficit | |
| HP:0006977 | Grammar-specific speech disorder | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0000719 | Inappropriate behavior | |
| HP:0001337 | Tremor | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 6685236[PMID]_11220749[PMID]_14991829[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99750
- This record as JSON: /data/d/99750.json