Classic progressive supranuclear palsy syndrome
Synonyms: Classic PSP syndrome · Richardson syndrome · Steele-Richardson-Olszewski disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A classical form of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by slowing of vertical saccadic eye movements, falls due to postural instability, axial akinetic-rigid syndrome, and cognitive impairment. Difficulties in speech and swallowing may develop.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Classic progressive supranuclear palsy syndrome | Classic PSP syndrome · Richardson syndrome · Steele-Richardson-Olszewski disease |
| fr | Syndrome de paralysie supranucléaire progressive classique | Maladie de Steele-Richardson-Olszewski · Syndrome PSP classique · Syndrome de Richardson |
| de | Progressive supranukleäre Blickparese, klassische | PSP, klassische · Richardson-Syndrom · Steele-Richardson-Olszewski-Krankheit |
| es | Síndrome de parálisis supranuclear progresiva clásica | Enfermedad de Steele-Richardson-Olszewski · Síndrome de PSP clásica · Síndrome de Richardson |
| it | Paralisi sopranucleare progressiva classica | Malattia di Steele-Richardson-Olszewski · PSP classica · Sindrome di Richardson |
| nl | Klassieke progressieve supranucleaire paralyse-syndroom | Klassieke PSP-syndroom · Klassieke progressieve supranucleaire verlamming-syndroom · Syndroom van Richardson · Ziekte van Steele-Richardson-Olszewski |
| pt | Paralisia supranuclear progressiva clássica | |
| pl | Klasyczne postępujące porażenie nadjądrowe | Choroba Steelea, Richardsona i Olszewskiego · Klasyczne PSP · Zespół Richardsona |
| cs | Klasický syndrom progresivní supranukleární obrny | Klasický PSP syndrom · Steeleho-Richardsonova-Olszewského nemoc · Richardsonův syndrom · Steele-Richardson-Olszewského nemoc |
| uk | Класичний синдром прогресуючого надядерного паралічу | Класичний синдром ПСП · Синдром Річардсона · Хвороба Стіла-Річардсона-Ольшевського |
| zh | 经典进行性核上性麻痹综合征 | Steele-Richardson-Olszewski病 |
| tr | Klasik ilerleyici supranükleer palsi sendromu | Richardson sendromu · Klasik PSP sendromu · Steele-Richardson-Olszewski hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601104 | E | validated | |
| OMIM | 609454 | BTNT | validated | |
| OMIM | 610898 | BTNT | validated | |
| ICD-10 | G23.1 | NTBT | inclusion | validated |
| ICD-11 | 8A00.10 | NTBT | index | validated |
| MONDO | 0010997 | 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAPT | Major susceptibility factor in | Assessed | HGNC:6893 | ENSG00000186868 | 157140 | 17q21.31 | microtubule associated protein tau |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
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 2018-12-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002527 | Falls | |
| HP:0001268 | Mental deterioration | |
| HP:0002172 | Postural instability | |
| Frequent (79-30%) | ||
| HP:0000570 | Abnormal saccadic eye movements | |
| HP:0002530 | Axial dystonia | |
| HP:0000643 | Blepharospasm | |
| HP:0000622 | Blurred vision | |
| HP:0002067 | Bradykinesia | |
| HP:0030953 | Conjunctival hyperemia | |
| HP:0000633 | Decreased lacrimation | |
| HP:0001260 | Dysarthria | |
| HP:0002141 | Gait imbalance | |
| HP:0100710 | Impulsivity | |
| HP:0001300 | Parkinsonism | |
| HP:0000613 | Photophobia | |
| HP:0007158 | Progressive extrapyramidal muscular rigidity | |
| HP:0000514 | Slow saccadic eye movements | |
| HP:0007164 | Slowed slurred speech | |
| HP:0000605 | Supranuclear gaze palsy | |
| HP:0000511 | Vertical supranuclear gaze palsy | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002304 | Akinesia | |
| HP:0006921 | Axial muscle stiffness | |
| HP:0001332 | Dystonia | |
| HP:0002068 | Neuromuscular dysphagia | |
| HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | |
| HP:0007086 | Social and occupational deterioration | |
| HP:0001337 | Tremor | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 7496773[PMID]_15900030[PMID]_14107684[PMID]_15852377[PMID]_11708994[PMID]_10072441[PMID]_14629785[PMID]_10388790[PMID]_16157753[PMID]_12654952[PMID]_16157754[PMID]_19458322[PMID]_14595660[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/240071
- This record as JSON: /data/d/240071.json